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Effect of riluzole on weight in short-term and long-term survivors of amyotrophic lateral sclerosis Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2021-01-20 Kinjal Thakor; Shelly Naud; Diantha Howard; Rup Tandan; Waqar Waheed
Abstract Introduction Riluzole is the first disease-modifying therapy for amyotrophic lateral sclerosis (ALS) approved in 1995 by the Food and Drug Administration in the USA, and is now available worldwide. It delays time to tracheostomy or death and prolongs survival. The precise mechanism of the survival prolonging effect is unknown. Malnutrition and ensuing weight loss are associated with shorter
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Progression of cognitive and behavioral disturbances in motor neuron diseases assessed using standard and computer-based batteries Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2021-01-19 Veronica Castelnovo; Elisa Canu; Nilo Riva; Barbara Poletti; Camilla Cividini; Andrea Fontana; Federica Solca; Vincenzo Silani; Massimo Filippi; Federica Agosta
Abstract Objective: Detecting and monitoring cognitive and behavioral deficits in motor neuron diseases (MND) is critical due to their considerable clinical impact. In this scenario, computer-based batteries may play an important role. In this study, we investigated the progression of cognitive and behavioral deficits in MND patients using both standard and computer-based neuropsychological batteries
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A novel nonsense SOD1 mutation (p.Asn140Ter) in a sporadic amyotrophic lateral sclerosis case with rapid progression Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2021-01-15 Zexin Zhan; Yaqing Shu; Yipeng Zhao; Jiewei Peng; Bing Qin
Abstract Sporadic amyotrophic lateral sclerosis (ALS; SALS) accounts for more than 90% of all cases of the fatal neurodegenerative disease ALS. Cu/Zn superoxide dismutase (SOD1) gene mutations are the confirmed causes of adult-onset ALS. Here, we report a novel nonsense mutation, c.417_418insT (p.Asn140Ter), in exon 5 of the SOD1 gene in a Chinese adult female patient with SALS who showed rapid disease
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Problem-focused coping underlying lower caregiver burden in ALS-FTD: implications for caregiver intervention Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2021-01-13 Jashelle Caga; Margaret C. Zoing; David Foxe; Eleanor Ramsey; Mirelle D’Mello; Eneida Mioshi; Rebekah M. Ahmed; Matthew C. Kiernan; Olivier Piguet
Abstract Objective: Amyotrophic lateral sclerosis (ALS) is a multisystem neurodegenerative disorder which includes cognitive and behavioral symptoms akin to frontotemporal dementia (FTD). Despite the necessity of caregiver intervention to assist with the management of cognitive and behavioral symptoms, there has been a lack of research on the topic. A focus on caregiver coping may offer a promising
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Trauma and amyotrophic lateral sclerosis: a systematic review and meta-analysis Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2021-01-11 Dongqing Gu; Shan Ou; Mingshuang Tang; Zhiyong Yin; Zhengguo Wang; Guodong Liu
Abstract Background: Trauma especially head trauma is considered a potential risk factor of amyotrophic lateral sclerosis (ALS), but their association has not been well established. We aimed to determine the association of prior trauma with ALS risk. Methods: This study was performed according to the Meta-Analysis of Observational Studies in Epidemiology guideline to assess related literatures, and
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Investigating TBP CAG/CAA trinucleotide repeat expansions in a Taiwanese cohort with ALS Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-12-30 Kang-Yang Jih; Kon-Ping Lin; Pei-Chien Tsai; Bing-Wen Soong; Yi-Chu Liao; Yi-Chung Lee
Abstract Intermediate-length CAG repeats in ATXN2 have been well recognized as a genetic risk factor for amyotrophic lateral sclerosis (ALS). However, the role of similar trinucleotide repeat expansions in the TATA-box binding protein gene (TBP), another disease-associated gene for inherited ataxia, in ALS remains elusive. To assess the association between TBP trinucleotide repeat expansions and ALS
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Associations between autoimmune diseases and amyotrophic lateral sclerosis: a register-based study Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-12-17 Can Cui; Elisa Longinetti; Henrik Larsson; John Andersson; Yudi Pawitan; Fredrik Piehl; Fang Fang
Abstract Objective: To assess the associations of 43 autoimmune diseases with the subsequent risk of ALS and further evaluate the contribution of familial confounding to these associations. Methods: We conducted a nationwide register-based nested case-control study including 3561 ALS patients diagnosed during 1990–2013 in Sweden and 35,610 controls that were randomly selected from the general population
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Dysfunction of the left angular gyrus may be associated with writing errors in ALS Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-12-17 Toru Sakurai; Shigeki Hirano; Midori Abe; Yuriko Uji; Keisuke Shimizu; Masahide Suzuki; Yoshikazu Nakano; Ai Ishikawa; Kazuho Kojima; Kazumoto Shibuya; Atsushi Murata; Satoshi Kuwabara
Abstract Background: Language dysfunction is a feature of cognitive impairment in amyotrophic lateral sclerosis (ALS) that may compromise communication. Objective: To elucidate language dysfunction in patients with ALS and its relationship with other neuropsychological tests and to identify the brain regions associated with this dysfunction using perfusion image. Methods: Overall, 37 patients with
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Simultaneous ALS and SCA2 associated with an intermediate-length ATXN2 CAG-repeat expansion Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-12-07 Helia Ghahremani Nezhad; John P. Franklin; James J. P. Alix; Tobias Moll; Michael Pattrick; Johnathan Cooper-Knock; Priya Shanmugarajah; Nick J. Beauchamp; Marios Hadjivissiliou; David Paling; Christopher Mcdermott; Pamela J. Shaw; Thomas M. Jenkins
Abstract Spinocerebellar ataxia type 2 (SCA2) and amyotrophic lateral sclerosis (ALS) share a common molecular basis: both are associated with CAG-repeat expansion of ATXN2 and TDP-43-positive neuronal cytoplasmic inclusions. To date, the two disorders are viewed as clinically distinct with ALS resulting from 30-33 CAG-repeats and SCA2 from >34 CAG-repeats. We describe a 67-year old with a 32 CAG-repeat
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Cognitive reserve is associated with altered clinical expression in amyotrophic lateral sclerosis Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-12-02 Monica Consonni; Eleonora Dalla Bella; Enrica Bersano; Alessandra Telesca; Giuseppe Lauria
Abstract Objective: Long-term life experiences, such as education, occupational attainment, leisure activities, and bilingualism, have been considered proxies of cognitive reserve (CR). In neurodegenerative disease, CR is considered as a modulator of a more favorable cognitive trajectory and motor functions. Our study investigated the role of CR on cognitive and motor involvement in a large cohort
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Disorders of sleep and wakefulness in amyotrophic lateral sclerosis (ALS): a systematic review Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-11-16 Diana Lucia; Pamela A. McCombe; Robert D. Henderson; Shyuan T. Ngo
Abstract Disorders of sleep and wakefulness are common among neurodegenerative diseases. While amyotrophic lateral sclerosis (ALS) predominately manifests as motor symptoms, there is emerging evidence that disruptions to sleep and wakefulness also occur. This systematic review aims to report the most common disorders of sleep and wakefulness in ALS. We conducted a qualitative systematic review as per
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Platform Communications: Abstract Book - 31st International Symposium on ALS/MND (Complete printable file) Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-11-05
(2020). Platform Communications: Abstract Book - 31st International Symposium on ALS/MND (Complete printable file) Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration: Vol. 21, Abstracts from the 31th International Symposium on ALS/MND, pp. 1-30.
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The human gut microbiota in people with amyotrophic lateral sclerosis Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-11-02 Katharine Nicholson; Kjetil Bjornevik; Galeb Abu-Ali; James Chan; Marianna Cortese; Brixhilda Dedi; Maryangel Jeon; Ramnik Xavier; Curtis Huttenhower; Alberto Ascherio; James D. Berry
Abstract Objective To characterize the gut microbiota in people with amyotrophic lateral sclerosis (ALS) relative to controls and to test the hypothesis that butyrate-producing bacteria are less abundant in the gastrointestinal tracts of people with ALS (PALS). Methods: We conducted a case–control study at Massachusetts General Hospital to compare the gut microbiota in people with ALS to that in controls
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Dyslipidemia in patients with amyotrophic lateral sclerosis – a case control retrospective study Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-10-26 Beata Chełstowska; Anna Barańczyk-Kuźma; Magdalena Kuźma-Kozakiewicz
Abstract Amyotrophic lateral sclerosis (ALS) is a fatal, neurodegenerative disorder leading to quadriplegia and aphagia. While swallowing difficulties and increased energy demand lead to malnutrition, increased lipid concentration may correlate with survival and respiratory functions. Objective: To analyze the frequency and type of dyslipidemias in a large population of clinically characterized ALS
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Natural history and clinical features of ALS in Malaysia Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-10-21 Nur Adilah Abdul Aziz; Tsun-Haw Toh; Khean-Jin Goh; Ee-Chin Loh; David Paul Capelle; Lydia Abdul Latif; Alex Hwong-Ruey Leow; Carolyn Chue-Wai Yim; Mohd Fitry Zainal Abidin; Shairil Rahayu Ruslan; Nortina Shahrizaila
Abstract Objective Studies from multiethnic populations are rarely reported but do indicate differences in phenotypic presentation and survival in amyotrophic lateral sclerosis (ALS). In this study, we aimed to investigate the natural history of a cohort of ALS patients from a multiethnic population. Methods: Data from ALS patients presenting to our multidisciplinary ALS clinic were prospectively collected
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Elevated plasma levels of D-serine in some patients with amyotrophic lateral sclerosis Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-10-14 Aven Lee; Buddhika Jayakody Arachchige; Robert Henderson; David Pow; Sarah Reed; James Aylward; Pamela Ann McCombe
Abstract D-serine is an endogenous co-agonist with glutamate for activation of the N-methyl-D-aspartate receptor (NMDAR). D-serine exacerbates neuronal death and is elevated in the spinal cord from patients with sporadic/familial ALS. The present study was undertaken to examine whether plasma levels of D-serine of patients with ALS are different from those of healthy controls. Levels of D-serine in
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Pre-diagnostic plasma lipid levels and the risk of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-28 Kjetil Bjornevik,Éilis J O'Reilly,Marianna Cortese,Jeremy D Furtado,Laurence N Kolonel,Loic Le Marchand,Marjorie L Mccullough,Sabrina Paganoni,Michael A Schwarzschild,Aladdin H Shadyab,Joann E Manson,Alberto Ascherio
Abstract Objective To assess whether pre-diagnostic lipid levels are associated with Amyotrophic lateral sclerosis (ALS) risk. Methods: We conducted a matched case-control study nested in five large prospective US cohorts (the Nurses’ Health Study, the Health Professionals Follow-up Study, the Cancer Prevention Study II Nutrition Cohort, the Multiethnic Cohort Study, and the Women’s Health Initiative)
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A Phase 2, Double-Blind, Randomized, Dose-Ranging Trial Of Reldesemtiv In Patients With ALS. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-24 Jeremy M Shefner,Jinsy A Andrews,Angela Genge,Carlayne Jackson,Noah Lechtzin,Timothy M Miller,Bettina M Cockroft,Lisa Meng,Jenny Wei,Andrew A Wolff,Fady I Malik,Cynthia Bodkin,Benjamin R Brooks,James Caress,Annie Dionne,Dominic Fee,Stephen A Goutman,Namita A Goyal,Orla Hardiman,Ghazala Hayat,Terry Heiman-Patterson,Daragh Heitzman,Robert D Henderson,Wendy Johnston,Chafic Karam,Matthew C Kiernan,Stephen
Objective To evaluate safety, dose response, and preliminary efficacy of reldesemtiv over 12 weeks in patients with amyotrophic lateral sclerosis (ALS). Methods: Patients (≤2 years since diagnosis) with slow upright vital capacity (SVC) of ≥60% were randomized 1:1:1:1 to reldesemtiv 150, 300, or 450 mg twice daily (bid) or placebo; active treatment was 12 weeks with 4-week follow-up. Primary endpoint
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Mouth occlusion pressure at 100ms (P0.1) as a respiratory biomarker in amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-21 Susana Pinto,Michael Swash,Mamede De Carvalho
Introduction Airway pressure in the first 100ms of an occluded inspiration (P0.1) evaluates the respiratory center activity, increasing in the presence of respiratory muscle weakness. It is uncertain if its activity can compensate for respiratory muscles weakness in amyotrophic lateral sclerosis (ALS). Methods: Consecutive ALS patients with P0.1 evaluated at first visit were included. Depending on
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Motor Neuron Disease Register for England, Wales and Northern Ireland-an analysis of incidence in England. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-17 Sarah Opie-Martin,Lynn Ossher,Andrea Bredin,Anna Kulka,Neil Pearce,Kevin Talbot,Ammar Al-Chalabi
Introduction Amyotrophic lateral sclerosis (ALS) has a reported incidence of 1–2/100,000 person-years. It is estimated that there are 5000 people with ALS in the UK at any one time; however, the true figure and geographical distribution, are unknown. In this study, we describe the establishment of a population register for England, Wales, and Northern Ireland and report-estimated incidence. Methods:
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Interleukin 6 (IL6) level is a biomarker for functional disease progression within IL6R358Ala variant groups in amyotrophic lateral sclerosis patients. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-14 Marlena Wosiski-Kuhn,James B Caress,Michael S Cartwright,Gregory A Hawkins,Carol Milligan
Interleukin-6 (IL6) expression increases in atrophying muscles and lung tissue during compromised function. Considering ALS patients undergo these same pathological changes, IL6 levels may be relevant for prognostication and treatment. The amount of soluble IL6 receptor, dictated by the IL6R358Ala variant, and local tissue environment in which IL6 signaling occurs is known to influence the ultimate
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Telemedicine for patients with amyotrophic lateral sclerosis during COVID-19 pandemic: an Italian ALS referral center experience. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-12 Rosario Vasta,Cristina Moglia,Fabrizio D'Ovidio,Francesca Di Pede,Filippo De Mattei,Sara Cabras,Laura Peotta,Barbara Iazzolino,Silvia Giusiano,Umberto Manera,Francesca Palumbo,Alessandro Bombaci,Maria Claudia Torrieri,Antonio Ilardi,Enza Mastro,Martina Arcari,Luca Solero,Maurizio Grassano,Margherita Daviddi,Enrico Matteoni,Paolina Salamone,Giuseppe Fuda,Antonio Canosa,Adriano Chiò,Andrea Calvo
We describe the telemedicine experience of an Italian ALS tertiary Center during COVID-19 pandemic. A total of 144 visits were scheduled between 6th March and 6th April 2020. These mostly consisted of neurological or psychological visits (139, 96.5%). One hundred thirty-nine (96.5%) visits were performed as telemedicine and mostly via phone call (112, 80.6%). Three (2.1%) visits were considered as
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Degeneration of gray and white matter differs between hypometabolic and hypermetabolic brain regions in a patient with ALS-FTD: a longitudinal MRI - PET multimodal study. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-12 Venkateswaran Rajagopalan,Erik P Pioro
Objective [18F]-fluoro-2-deoxy-d-glucose positron emission tomography (18F-FDG PET) imaging and magnetic resonance imaging (MRI) of brain in ALS patients with frontotemporal lobe dementia (ALS-FTD) reveal hypometabolism and hypermetabolism, as well as gray matter (GM) and white matter (WM) abnormalities in different brain regions, respectively. Hypometabolism arising from neuronal dysfunction or loss
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Amyotrophic lateral sclerosis in Antalya, Turkey. A prospective study, 2016-2018. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-12 Hilmi Uysal,Parvin Taghiyeva,Mehtap Türkay,Fırat Köse,Mehmet Aktekin
Objective The aim of the study is to find the prevalence and incidence of amyotrophic lateral sclerosis in Antalya and to define patient characteristics. Methods The study represents five major districts in the Antalya metropolitan region, with a population of 1,286,943, which is defined as the provincial center. In cooperation with the neurology departments of all hospitals and private practices,
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The NEALS primary lateral sclerosis registry. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-11 Sabrina Paganoni,Fabiola De Marchi,James Chan,Sara K Thrower,Nathan P Staff,Neil Datta,Yaz Y Kisanuki,Vivian Drory,Christina Fournier,Erik P Pioro,Stephen A Goutman,Nazem Atassi,
Background and objective Primary lateral sclerosis (PLS) is a neurodegenerative disease characterized by progressive upper motor neuron dysfunction. Because PLS patients represent only 1 to 4% of patients with adult motor neuron diseases, there is limited information about the disease’s natural history. The objective of this study was to establish a large multicenter retrospective longitudinal registry
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Fit for purpose? A cross-sectional study to evaluate the acceptability and usability of HeadUp, a novel neck support collar for neurological neck weakness. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-10 Lise Sproson,Vitaveska Lanfranchi,Alexis Collins,Suresh Chhestri,Niamh Daly,Michelle Ennis,Lucie Glennon,George Gorrie,Emily Jay,Rachael Marsden,Avril D McCarthy,Liz Pryde,Rhys Roberts,Anna Rutherford,Jessica Ryan,Gill Stot,Wendy B Tindale,Pamela J Shaw,Christopher J McDermott
The HeadUp collar (previously known as the Sheffield Support Snood) provides support for neck weakness caused by amyotrophic lateral sclerosis (ALS) and has shown to be superior to alternative options in a small cohort of patients from one single center. Here we report the assessment of the HeadUp collar in a larger cohort of patients, exploring the use in other neurological conditions and expanding
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Who cares for the bereaved? A national survey of family caregivers of people with motor neurone disease. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-10 Samar M Aoun,Paul A Cafarella,Bruce Rumbold,Geoff Thomas,Anne Hogden,Leanne Jiang,Sonia Gregory,David W Kissane
Background Although Motor Neurone Disease (MND) caregivers are most challenged physically and psychologically, there is a paucity of population-based research to investigate the impact of bereavement, unmet needs, range of supports, and their helpfulness as perceived by bereaved MND caregivers. Methods: An anonymous national population-based cross-sectional postal and online survey of bereavement experiences
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Mutations of DNAJC7 are rare in Chinese amyotrophic lateral sclerosis patients. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-08 Xiaohan Sun,Ximeng Zhao,Qing Liu,Kang Zhang,Shuangwu Liu,Zhili Wang,Xunzhe Yang,Liang Shang,Liying Cui,Xue Zhang
Background Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by progressive injury of both upper and lower motor neurons. Recently, protein-truncating and missense mutations of DNAJC7 have been reported in European ALS cohorts. However, the contribution of DNAJC7 mutations in Asian patients with ALS remains unclear. Methods: DNAJC7 mutation screening was performed
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Arabic adaptation and validation of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R): Egyptian study. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-08 Hebatallah R Rashed,Mohamed A Tork,Radwa Soliman,Rehab Serag,Nagia Fahmy
Introduction ALSFRS-R is 12-item scale used to assess disability and to measure disease progression in ALS patients. The objective is to validate the Arabic version of ALSFRS-R based on the original English version. Methods and patients: This is a cross sectional study. ALSFRS-R was administered to 162 Egyptian patients with ALS after being translated in Arabic, and reapplied after 1 week. Patients
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ALS and fertility: does ALS affect number of children patients have? Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-08 HIlmi Uysal,Uğur Bilge,Nevruz İlhanli,Marta Gromicho,Julian Grosskreutz,Magdalena Kuzma-Kozakiewicz,Susana Pinto,Susanne Petri,Katarzyna Szacka,Krzysztof Nieporecki,Mamede De Carvalho
Objective Amyotrophic Lateral Sclerosis is one major disease in the group of neurodegenerative conditions. As with most other neurodegenerative diseases, clinical signs of the disease usually show among the elderly population, and most commonly around 60–65 years of age. Therefore the disease is not expected to impact the fertility of ALS patients. When examined from an evolutionary medicine and evolutionary
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Heterogeneity of predictors of nocturnal hypoventilation in amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-08 Grazia Crescimanno,Alessandra Sorano,Francesca Greco,Maria Canino,Alessia Abbate,Oreste Marrone
Objective In amyotrophic lateral sclerosis (ALS), early recognition of nocturnal hypoventilation (NH) is essential to start noninvasive ventilation (NIV), but nocturnal transcutaneous PCO2 (PtcCO2) is difficult to monitor. Usefulness of respiratory and muscular function test in the prediction of NH has been explored without distinguishing among ALS phenotypes. We evaluated cross-sectional relationships
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Amyotrophic lateral sclerosis in the Faroe Islands - a genealogical study. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-04 Malan Johansen,Kirsten Svenstrup,Ólavur Mortensen,Guðrið Andorsdóttir,Bjarni Á Steig,Poul Joensen,Torben Hansen,Maria Skaalum Petersen
In the Faroe Islands, a clustering of amyotrophic lateral sclerosis (ALS) was observed on the geographically isolated island, Suðuroy. This study aims to estimate the frequency of familial ALS (fALS) in the Faroes including 43 patients diagnosed with ALS. Patients with fALS were identified through medical records and the Faroese Multi Generation Register. Firstly, fALS was recognized when occurring
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Resting state functional MRI brain signatures of fast disease progression in amyotrophic lateral sclerosis: a retrospective study. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-04 Francesca Trojsi,Federica Di Nardo,Mattia Siciliano,Giuseppina Caiazzo,Carla Passaniti,Giulia D'Alvano,Dario Ricciardi,Antonio Russo,Alvino Bisecco,Luigi Lavorgna,Simona Bonavita,Mario Cirillo,Fabrizio Esposito,Gioacchino Tedeschi
Objective Advanced neuroimaging techniques may offer the potential to monitor disease spreading in amyotrophic lateral sclerosis (ALS). We aim to investigate brain functional and structural magnetic resonance imaging (MRI) changes in a cohort of ALS patients, examined at diagnosis and clinically monitored over 18 months, in order to early discriminate fast progressors (FPs) from slow progressors (SPs)
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Juvenile amyotrophic lateral sclerosis with complex phenotypes associated with novel SYNE1 mutations. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-09-01 Hiroya Naruse,Hiroyuki Ishiura,Jun Mitsui,Yuji Takahashi,Takashi Matsukawa,Tatsushi Toda,Shoji Tsuji
Mutations in SYNE1 have been originally described to cause a slowly progressive, pure cerebellar ataxia (spinocerebellar ataxia, autosomal-recessive 8; SCAR8). Notably, recent studies revealed that affected patients with SYNE1-associated ataxia can present with complex phenotypes rather than pure cerebellar ataxia, including motor neuron and brainstem dysfunctions. We herein report a Japanese patient
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Measuring quality of life in ALS/MND: validation of the WHOQOL-BREF. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-06-27 Carolyn A Young,Roger Mills,Ammar Al-Chalabi,Georgina Burke,Siddharthan Chandran,David J Dick,John Ealing,C Oliver Hanemann,Timothy Harrower,Christopher J Mcdermott,Tahir Majeed,Ashwin Pinto,Kevin Talbot,Jannette Walsh,Timothy L Williams,Alan Tennant,
Objectives: The World Health Organization Quality of Life-BREF Scale (WHOQOL-BREF) is a generic QOL measure with four domains covering Physical, Psychological, Social and Environment. Providing the opportunity to contrast QoL with other conditions, or with population norms, the current study had three aims: 1) can the established domains of the WHOQOL-BREF be validated within a large ALS/MND population;
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Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-06-22 Abigail Licata,Timo Grimmer,Juliane Winkelmann,Matias Wagner,Oliver Goldhardt,Lina Riedl,Carola Roßmeier,Igor Yakushev,Janine Diehl-Schmid
Objective: The aims of our study were to describe the clinical phenotype and to characterize the cerebral glucose metabolism patterns as measured with fluordesoxyglucose-positron emission tomography (FDG-PET) in symptomatic FTLD-patients with different GRN variants. Methods: For this study, data were included from all patients (n = 10) of a single-center FTLD registry study who had a pathogenic GRN
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Validation of the Italian version of self-administered ALSFRS-R scale. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-28 Umberto Manera,Sara Cabras,Margherita Daviddi,Rosario Vasta,Maria Claudia Torrieri,Francesca Palumbo,Alessandro Bombaci,Maurizio Grassano,Luca Solero,Laura Peotta,Barbara Iazzolino,Antonio Canosa,Andrea Calvo,Adriano Chiò,Cristina Moglia
Objectives To validate and assess the reliability of the Italian version of self-administered ALSFRS-R, considering patients’ clinical and cognitive features and caregiver’s help. Methods: During the COVID-19 pandemic, by analyzing the results of 70 paired self-administered vs standard telephone-administered ALSFRS-R, we calculated overall score, single item scores, ALSFRS-R domain scores, King’s and
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Engaging ALS patients and caregivers (the ALS research ambassadors) to help design the REFINE-ALS biomarker study. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-24 James D Berry,Richard Bedlack,Debra Mathews,Wendy Agnese,Stephen Apple
In the planning and design of the Radicava/Edaravone Findings in Biomarkers From Amyotrophic Lateral Sclerosis (REFINE-ALS) study, we sought to elicit feedback from patients with ALS and their caregivers to ensure that patient-centric issues would be addressed. Ten ALS Clinical Research Learning Institute (ALS-CRLI) Research Ambassadors participated in 2 meetings. They provided perspectives on patients’
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ALSUntangled 58: Azathioprine. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-20
(2020). ALSUntangled 58: Azathioprine. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. Ahead of Print.
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The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in frontotemporal dementia. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-19 Jennifer A Saxon,Jennifer C Thompson,Jennifer M Harris,John Ealing,Hisham Hamdalla,Amina Chaouch,Carolyn Young,Daniel Blackburn,Tahir Majeed,Claire Gall,Anna M T Richardson,Tobias Langheinrich,Matthew Jones,Julie S Snowden
Abstract Objectives To examine the usefulness of the Edinburgh Cognitive and Behavioral Amyotrophic Lateral Sclerosis (ALS) Screen (ECAS) as a cognitive screening tool for the detection of behavioral variant frontotemporal dementia (bvFTD). A secondary aim was to determine whether people with FTD combined with ALS (ALS-FTD) exhibit a similar ECAS profile to that of people with bvFTD alone. Methods:
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Effects of MSC-NTF cells on T and B regulatory cell function in ALS Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-18 Ralph Kern; Revital Aricha; Haggai Kaspi; Yael Gothelf; Chaim Lebovits
(2020). Effects of MSC-NTF cells on T and B regulatory cell function in ALS. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. Ahead of Print.
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Putative founder effect in the Polish, Iranian and United States populations for the L144S SOD1 mutation associated with slowly uniform phenotype of amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-10 Magdalena Kuźma-Kozakiewicz,Peter M Andersen,Elahe Elahi,Afagh Alavi,Peter C Sapp,Mitsuya Morita,Cezary Żekanowski,Mariusz Berdyński
Mutations in SOD1 cause approximately 12–25% of familial ALS and ≈2% of apparently sporadic ALS cases. Clinical phenotypes linked to SOD1 mutations are heterogeneous and intra-familial variability of the clinical phenotype is frequently observed. SOD1 L144S mutation, identified also in Brazil, Iran and United States, is the second most frequent mutation among ALS patients in Poland. So far, 10 FALS
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NEK1 and GRN mutations coexist in a sporadic Chinese Hui descent ALS patient. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-08 Kang Zhang,Yan Lu,Jianhong Chen,Jian Li,Kamal Kishor Yadav,Jiao Yin,Xiao Yang
We describe a sporadic amyotrophic lateral sclerosis (ALS) patient who presented rapid progress of muscle weakness and died of respiratory failure one and a half years after onset. Genetic analysis revealed a novel ALS-causing gene NEK1 nonsense mutation p.K1210* and a known pathogenic frontotemporal lobar degeneration (FTD)-causing gene GRN mutation p.C139R. It is rare for ALS patients to carry two
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The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) for Japanese ALS and FTD patients. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-08-06 Yasuhiro Watanabe,Mieko Ogino,Hiroo Ichikawa,Ritsuko Hanajima,Kenji Nakashima
Objective Amyotrophic lateral sclerosis (ALS) patients might present with cognitive and behavioural abnormalities resembling frontotemporal dementia (FTD). The Edinburgh Cognitive and Behavioural ALS Screen (ECAS) was developed as an easy to administer cognitive screen for detecting these symptoms. The aim of the present study was to develop and validate a Japanese version of the ECAS. Methods In this
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Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-30 Kazumoto Shibuya; Setsu Sawai; Atsuhiko Sugiyama; Mizuho Koide; Ayumi Nishiyama; Masashi Aoki; Satoshi Kuwabara Md
We describe a 48-year-old man, suffering from difficulties in closing his eyes. He subsequently experienced progressive weakness in the facial and bulbar regions and upper limbs. His father and paternal grandmother had limb weakness as initial manifestations and were diagnosed with amyotrophic lateral sclerosis (ALS). In the present case, neuroimaging and laboratory studies were unremarkable, and neurophysiological
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The distinct manifestation of young-onset amyotrophic lateral sclerosis in China Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-30 Jianing Lin; Weineng Chen; Pian Huang; Youna Xie; Minying Zheng; Xiaoli Yao
Objective Young-onset amyotrophic lateral sclerosis (ALS) refers to ALS patients with initial symptoms earlier than 45 years, representing a novel disease pattern. We aim to summarize the clinical and genetic features of 102 young-onset ALS patients in China. Methods: Clinical information and blood samples were collected from all registered patients, and we performed next generation sequencing techniques
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Novel FUS mutation Y526F causing rapidly progressive familial amyotrophic lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-28 Zhang-Yu Zou,Chun-Hui Che,Shu-Yan Feng,Xiu-Ying Fang,Hua-Pin Huang,Chang-Yun Liu
FUS gene is one of the most common mutated genes in amyotrophic lateral sclerosis (ALS). We sequenced for FUS mutations in a cohort of 15 familial ALS and 275 sporadic ALS of Chinese origin. All 15 exons of the FUS gene were sequenced by targeted next-generation sequencing in a cohort of 15 familial ALS indexes and 275 sporadic ALS patients of Chinese origin. One novel p.Y526F mutation in FUS was detected
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Total serum immunoglobulin A in ALS. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-16 Jesse Crayle,Mai Elmallah,John Sleasman,Richard Bedlack
Introduction Amyotrophic lateral sclerosis (ALS) can have marked phenotypic variability. To date, no biomarker explains this variability. This study tested the hypothesis that immunoglobulin A (IgA) levels might help explain the variability seen in ALS clinical presentations. Methods: A database of the electronic health record at a tertiary referral academic medical center was used to extract data
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Grief, depression, and anxiety in bereaved caregivers of people with motor neurone disease: a population-based national study. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-16 Samar M Aoun,David W Kissane,Paul A Cafarella,Bruce Rumbold,Anne Hogden,Leanne Jiang,Natasha Bear
Background Despite the traumatic and fatal nature of motor neurone disease (MND) and the caring experiences being described as unrelenting, little is known about risk of psychiatric morbidity and Prolonged Grief Disorder (PGD) for family caregivers. Methods: A cross-sectional survey of caregivers bereaved in 2016-2018 was distributed by the five MND Associations in Australia (2019). Validated tools
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Longitudinal evaluation of upper motor neuron burden scales in primary lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-13 Mary Kay Floeter,Tianxia Wu
Objective To assess whether published scales for measuring upper motor neuron burden (UMNB) show longitudinal change in patients with primary lateral sclerosis (PLS). Design: Retrospective calculation of three UMNB scales on a prospectively collected dataset from 53 patients with PLS enrolled in a longitudinal natural history study with at least 2 evaluation visits. UMNB scales were calculated according
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Psychological interventions for people with motor neuron disease: a scoping review. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-13 Nicolò Zarotti,Emily Mayberry,Noora Ovaska-Stafford,Fiona Eccles,Jane Simpson
Objective Motor neuron disease (MND) is a rapidly progressive neurodegenerative condition with no known cure. MND can affect every aspect of a person’s life and has been associated with a wide range of psychological difficulties, which can occur from pre-diagnosis through to the condition’s later stages. However, very little research has been conducted on psychological interventions for people with
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Differentiating needs of informal caregivers of individuals with ALS across the caregiving course: a systematic review. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-13 Christopher Poppe,Insa Koné,Luzia Margarete Iseli,Kathi Schweikert,Bernice Simone Elger,Tenzin Wangmo
Background Informal caregivers of people with amyotrophic lateral sclerosis (ALS) experience a range of needs across the course of the disease. For the provision of adequate support, an examination of the empirical evidence is necessary. Aim The purpose of the systematic review was to synthesize evidence of needs of informal caregivers of people with ALS at different stages of caregiving. Method Systematic
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TDP-43 pathology in primary lateral sclerosis. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-11 Ian R A Mackenzie,Hannah Briemberg
Primary lateral sclerosis (PLS) is a controversial form of motor neuron disease (MND), with uncertainty whether it represents a distinct clinico-pathological entity or is simply a variant of classical amyotrophic lateral sclerosis (ALS). Neuropathological studies provide an opportunity to investigate these issues; however, there have been very few published descriptions of postmortem findings in clinically
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Clinical characteristics in young-adult ALS - results from a Portuguese cohort study. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-11 Miguel Oliveira Santos,Marta Gromicho,Susana Pinto,Mamede De Carvalho
Objective Studies concerning young-adult amyotrophic lateral sclerosis (yALS) are uncommon, due to the rarity of this condition. We aimed to investigate this subject. Methods: A retrospective-prospective study was conducted in our ALS center, including 1278 ALS patients followed longitudinally. Patients were divided in two groups - yALS (onset ≤40 years) and adult-onset ALS (aALS, onset >40 years)
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TRICALS: creating a highway toward a cure. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-09 Ruben P A van Eijk,Tessa Kliest,Christopher J McDermott,Kit C B Roes,Philip Van Damme,Adriano Chio,Markus Weber,Caroline Ingre,Philippe Corcia,Mònica Povedano,Evy Reviers,Michael A van Es,Ammar Al-Chalabi,Orla Hardiman,Leonard H van den Berg
Abstract A change in our current approach toward drug development is required to improve the likelihood of finding effective treatment for patients with amyotrophic lateral sclerosis (ALS). The aim of the Treatment Research Initiative to Cure ALS (TRICALS) is to extend the collective effort with industry and consolidate drug development paths. TRICALS has begun a series of meetings on how to best move
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Progression and survival of patients with motor neuron disease relative to their fecal microbiota. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-09 Shyuan T Ngo,Restuadi Restuadi,Allan F McCrae,Ruben P Van Eijk,Fleur Garton,Robert D Henderson,Naomi R Wray,Pamela A McCombe,Frederik J Steyn
Gut microbiota studies have been well-investigated for neurodegenerative diseases such as Alzheimer’s and Parkinson’s disease, however, fewer studies have comprehensively examined the gut microbiome in Motor Neuron Disease (MND), with none examining its impact on disease prognosis. Here, we investigate MND prognosis and the fecal microbiota, using 16S rRNA case–control data from 100 individuals with
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Characteristics of amyotrophic lateral sclerosis in Lebanon-a chart review. Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-07 Elia Malek,Helen Ismail,Hassan Doumiati,Johnny Salameh
Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder primarily manifesting as motor deficits. It is caused by motor neuron death and leads to progressive disability and demise. It can present at any age, manifest as several phenotypes, and may have a variable progression pattern. Methods: This retrospective study is based on chart review of subjects presenting to the American
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A placebo-controlled trial to investigate the safety and efficacy of Penicillin G/Hydrocortisone in patients with ALS (PHALS trial). Amyotroph. Lateral Scler. Frontotemporal Degener. (IF 3.286) Pub Date : 2020-07-06 Michael A Van Es,Ruben P A Van Eijk,Tommy M Bunte,Leonard H Van Den Berg
Abstract Objective: A recent case-series described patients with ALS to improve and/or stabilize after treatment with intravenous high-dose Penicillin G/Hydrocortisone (PenGH). In this study, we determine the safety and efficacy of intravenous PenGH versus placebo in combination with riluzole in patients with ALS. Methods: Patients diagnosed with ALS according to the El Escorial criteria were randomized