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  • Neurological manifestations of Erdheim–Chester Disease
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-29
    Louisa C. Boyd; Kevin J. O’Brien; Neval Ozkaya; Tanya Lehky; Avner Meoded; Bernadette R. Gochuico; Fady Hannah‐Shmouni; Avindra Nath; Camilo Toro; William A. Gahl; Juvianee I. Estrada‐Veras; Rahul H. Dave

    To characterize the spectrum of neurologic involvement in Erdheim–Chester Disease (ECD), a treatable inflammatory neoplasm of histiocytes.

    更新日期:2020-03-31
  • Self‐reported rates of impulsivity in Parkinson’s Disease
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-29
    Megan A. Aumann; Adam J. Stark; Shelby B. Hughes; Ya‐Chen Lin; Hakmook Kang; Elise Bradley; David H. Zald; Daniel O. Claassen

    Impulsive decision‐making is characterized by actions taken without considering consequences. Patients with Parkinson's disease (PD) who receive dopaminergic treatment, especially dopamine agonists, are at risk of developing impulsive–compulsive behaviors (ICBs). We assessed impulse‐related changes across a large heterogeneous PD population using the Barratt impulsivity scale (BIS‐11) by evaluating

    更新日期:2020-03-31
  • Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-25
    Angelica D’Amore; Alessandra Tessa; Valentina Naef; Maria Teresa Bassi; Andrea Citterio; Romina Romaniello; Gianluca Fichi; Daniele Galatolo; Serena Mero; Roberta Battini; Giulia Bertocci; Jacopo Baldacci; Federico Sicca; Federica Gemignani; Ivana Ricca; Anna Rubegni; Jennifer Hirst; Maria Marchese; Mustafa Sahin; Darius Ebrahimi‐Fakhari; Filippo M. Santorelli

    Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP‐4). Using next‐generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discovered variants in AP4S1 lead to reduced AP‐4 complex formation in patient‐derived fibroblasts. To further understand

    更新日期:2020-03-27
  • Cardiac arrhythmias in Dravet syndrome: an observational multicenter study
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-24
    Sharon Shmuely; Rainer Surges; Robert M. Helling; W. Boudewijn Gunning; Eva H. Brilstra; Judith S. Verhoeven; J. Helen Cross; Sanjay M. Sisodiya; Hanno L. Tan; Josemir W. Sander; Roland D. Thijs

    We ascertained the prevalence of ictal arrhythmias to explain the high rate of sudden unexpected death in epilepsy (SUDEP) in Dravet syndrome (DS).

    更新日期:2020-03-26
  • Clinical validation of an optimized multimodal neurocognitive assessment of chronic mild TBI
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-23
    Mark L. Ettenhofer; Sarah I. Gimbel; Evelyn Cordero

    Previous laboratory‐based studies have shown that neurocognitive eye‐tracking metrics are sensitive to chronic effects of mild traumatic brain injury (mTBI), even in individuals with normal performance on traditional neuropsychological measures. In this study, we sought to replicate and extend these findings in a military medical environment. We expected that metrics from the multimodal Fusion n‐Back

    更新日期:2020-03-26
  • Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-22
    Cheng‐Ta Chou; Bing‐Wen Soong; Kon‐Ping Lin; Yu‐Shuen Tsai; Kang‐Yang Jih; Yi‐Chu Liao; Yi‐Chung Lee

    To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan.

    更新日期:2020-03-26
  • Factors associated with fatigue in CNS inflammatory diseases with AQP4 and MOG antibodies
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-18
    Tianrong Yeo; Giordani Rodrigues dos Passos; Louwai Muhammed; Rosie Everett; Sandra Reeve; Silvia Messina; Fay Probert; Maria Isabel Leite; Jacqueline Palace

    Fatigue is a common and disabling symptom amongst people with multiple sclerosis, however it has not been compared across the central nervous system (CNS) inflammatory diseases associated with aquaporin‐4 (AQP4) and myelin oligodendrocyte glycoprotein (MOG) antibodies (Ab). We explored the factors associated with fatigue within and across the two diseases, and compared fatigue levels between them.

    更新日期:2020-03-19
  • FGF14‐related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-12
    Julie Piarroux; Florence Riant; Véronique Humbertclaude; Ganaelle Remerand; Jessica Hadjadj; Franck Rejou; Christine Coubes; Lucile Pinson; Pierre Meyer; Agathe Roubertie

    We report four patients from two families who presented attacks of childhood‐onset episodic ataxia associated with pathogenic mutations in the FGF14 gene. Attacks were triggered by fever, lasted several days, and had variable frequencies. Nystagmus and/or postural tremor and/or learning disabilities were noticed in individuals harboring FGF14 mutation with or without episodic ataxia. These cases and

    更新日期:2020-03-12
  • Gut microbiome variation is associated to Multiple Sclerosis phenotypic subtypes
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-12
    Tatjana Reynders; Lindsay Devolder; Mireia Valles‐Colomer; Ann Van Remoortel; Marie Joossens; Jacques De Keyser; Guy Nagels; Marie D’hooghe; Jeroen Raes

    Multiple sclerosis (MS) is a heterogenous, inflammatory disease of the central nervous system. Microbiota alterations in MS versus healthy controls (HC) are observed, but results are inconsistent. We studied diversity, enterotypes, and specific gut microbial taxa variation between MS and HC, and between MS subgroups.

    更新日期:2020-03-12
  • Brain metabolic alterations herald falls in patients with Parkinson’s disease
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-11
    Ioannis U. Isaias; Joachim Brumberg; Nicoló G. Pozzi; Chiara Palmisano; Andrea Canessa; Giorgio Marotta; Jens Volkmann; Gianni Pezzoli

    Pathophysiological understanding of gait and balance disorders in Parkinson’s disease is insufficient and late recognition of fall risk limits efficacious follow‐up to prevent or delay falls. We show a distinctive reduction of glucose metabolism in the left posterior parietal cortex, with increased metabolic activity in the cerebellum, in parkinsonian patients 6–8 months before their first fall episode

    更新日期:2020-03-12
  • Prognosis and risk factors for reocclusion after mechanical thrombectomy
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-10
    Weili Li; Jiayue Ding; Xueqin Sui; Zhifeng Qi; Longfei Wu; Chenghe Sun; Kangxiang Ji; Qingfeng Ma; Xunming Ji; Ke Jian Liu

    This study evaluates reocclusion prognostic outcomes and explores reocclusion risk factors after mechanical thrombectomy (MT) in Chinese stroke patients.

    更新日期:2020-03-10
  • Insular and occipital changes in visual snow syndrome: a BOLD fMRI and MRS study
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-10
    Francesca Puledda; Dominic Ffytche; David J. Lythgoe; Owen O’Daly; Christoph Schankin; Steven C. R. Williams; Peter J. Goadsby

    To investigate the pathophysiology of visual snow (VS), through a combined functional neuroimaging and magnetic resonance spectroscopy (1H‐MRS) approach.

    更新日期:2020-03-10
  • Vitamin D concentration and focal brain atrophy in older adults: a voxel‐based morphometric study
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-09
    Pauline Ali; Matthieu Labriffe; Nastassia Navasiolava; Marc‐Antoine Custaud; Mickaël Dinomais; Cédric Annweiler;

    Vitamin D is involved in brain health and function. Our objective was to determine whether lower 25‐hydroxyvitamin D (25OHD) concentration was associated with focal brain volume reduction in older adults. Serum 25OHD concentration was measured among 53 older adults (72 ± 5 years; 38% female; mean 25OHD = 67.3 ± 20.8 nmol/L). Gray matter volume (GMV) was automatically segmented using voxel‐based morphometry

    更新日期:2020-03-10
  • Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-09
    Sarah J. Beecroft; Kyle S. Yau; Richard J. N. Allcock; Kym Mina; Rebecca Gooding; Fathimath Faiz; Vanessa J. Atkinson; Cheryl Wise; Padma Sivadorai; Daniel Trajanoski; Nina Kresoje; Royston Ong; Rachael M. Duff; Macarena Cabrera‐Serrano; Kristen J. Nowak; Nicholas Pachter; Gianina Ravenscroft; Phillipa J. Lamont; Mark R. Davis; Nigel G. Laing

    To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center.

    更新日期:2020-03-10
  • Expansion of the genetic landscape of ERLIN2‐related disorders
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-08
    Siddharth Srivastava; Angelica D’Amore; Julie S. Cohen; Lindsay C. Swanson; Ivana Ricca; Antonella Pini; Ali Fatemi; Darius Ebrahimi‐Fakhari; Filippo M. Santorelli

    ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292ArgfsX26, associated also with sensorineural hearing loss in one child. One further subject had a de novo p.Gln63Lys

    更新日期:2020-03-09
  • Detection of prions in skin punch biopsies of Creutzfeldt–Jakob disease patients
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-06
    Angela Mammana; Simone Baiardi; Marcello Rossi; Alessia Franceschini; Vincenzo Donadio; Sabina Capellari; Byron Caughey; Piero Parchi

    Prion real‐time quaking‐induced conversion (RT‐QuIC) is an ultrasensitive assay detecting pathological aggregates of misfolded prion protein in biospecimens. We studied 71 punch biopsy skin samples of 35 patients with Creutzfeldt–Jakob disease (CJD), including five assessed in vitam. The results confirmed the high value of skin prion RT‐QuIC for CJD diagnosis (89% sensitivity and 100% specificity)

    更新日期:2020-03-06
  • Hematoma enlargement characteristics in deep versus lobar intracerebral hemorrhage
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-03-04
    Jochen A. Sembill; Joji B. Kuramatsu; Stefan T. Gerner; Maximilian I. Sprügel; Sebastian S. Roeder; Dominik Madžar; Manuel Hagen; Philip Hoelter; Hannes Lücking; Arnd Dörfler; Stefan Schwab; Hagen B. Huttner

    Hematoma enlargement (HE) is associated with clinical outcomes after supratentorial intracerebral hemorrhage (ICH). This study evaluates whether HE characteristics and association with functional outcome differ in deep versus lobar ICH.

    更新日期:2020-03-05
  • Optically pumped magnetoencephalography in epilepsy.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-29
    Umesh Vivekananda,Stephanie Mellor,Tim M Tierney,Niall Holmes,Elena Boto,James Leggett,Gillian Roberts,Ryan M Hill,Vladimir Litvak,Matthew J Brookes,Richard Bowtell,Gareth R Barnes,Matthew C Walker

    We demonstrate the first use of Optically Pumped Magnetoencephalography (OP-MEG) in an epilepsy patient with unrestricted head movement. Current clinical MEG uses a traditional SQUID system, where sensors are cryogenically cooled and housed in a helmet in which the patient's head is fixed. Here, we use a different type of sensor (OPM), which operates at room temperature and can be placed directly on

    更新日期:2020-03-02
  • Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-27
    Stéphane Auvin,Blandine Dozières-Puyravel,Andreja Avbersek,David Sciberras,Jo Collier,Karine Leclercq,Pavel Mares,Rafal M Kaminski,Pierandrea Muglia

    OBJECTIVE Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients, prompted us to test radiprodil, a negative allosteric NR2B modulator in preclinical

    更新日期:2020-02-28
  • Biallelic loss-of-function variants in RBL2 in siblings with a neurodevelopmental disorder.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-27
    Theresa Brunet,Milena Radivojkov-Blagojevic,Peter Lichtner,Verena Kraus,Thomas Meitinger,Matias Wagner

    The RBL2 locus has been associated with intelligence and educational attainment but not with a monogenic disorder to date. RBL2 encodes p130, a member of the retinoblastoma protein family, which is involved in mediating neuron survival and death. Previous studies on p130 knockout mice revealing embryonic death and impaired neurogenesis underscore the importance of RBL2 in brain development. Exome sequencing

    更新日期:2020-02-27
  • Network diffusion modeling predicts neurodegeneration in traumatic brain injury.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-27
    Govinda R Poudel,Juan F Dominguez D,Helena Verhelst,Catharine Vander Linden,Karel Deblaere,Derek K Jones,Ester Cerin,Guy Vingerhoets,Karen Caeyenberghs

    OBJECTIVE Traumatic brain injury (TBI) is a heterogeneous disease with multiple neurological deficits that evolve over time. It is also associated with an increased incidence of neurodegenerative diseases. Accordingly, clinicians need better tools to predict a patient's long-term prognosis. METHODS Diffusion-weighted and anatomical MRI data were collected from 17 adolescents (mean age = 15y8mo) with

    更新日期:2020-02-27
  • Novel MS vital sign: multi-sensor captures upper and lower limb dysfunction.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-26
    Alireza Akhbardeh,Jennifer K Arjona,Kristen M Krysko,Bardia Nourbakhsh,Pierre Antoine Gourraud,Jennifer S Graves

    OBJECTIVE To create a novel neurological vital sign and reliably capture MS-related limb disability in less than 5 min. METHODS Consecutive patients meeting the 2010 MS diagnostic criteria and healthy controls were offered enrollment. Participants completed finger and foot taps wearing the MYO-band© (accelerometer, gyroscope, and surface electromyogram sensors). Signal processing was performed to extract

    更新日期:2020-02-26
  • Scalp ripples as prognostic biomarkers of epileptogenicity in pediatric surgery
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-25
    Eleonora Tamilia; Matilde Dirodi; Michel Alhilani; P. Ellen Grant; Joseph R. Madsen; Steven M. Stufflebeam; Phillip L. Pearl; Christos Papadelis

    To assess the ability of high‐density Electroencephalography (HD‐EEG) and magnetoencephalography (MEG) to localize interictal ripples, distinguish between ripples co‐occurring with spikes (ripples‐on‐spike) and independent from spikes (ripples‐alone), and evaluate their localizing value as biomarkers of epileptogenicity in children with medically refractory epilepsy.

    更新日期:2020-02-25
  • A program of exercise, brain training, and lecture to prevent cognitive decline.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-18
    Minoru Kouzuki,Toshiaki Kato,Kenji Wada-Isoe,Shinya Takeda,Atsuhito Tamura,Yuichi Takanashi,Shintaro Azumi,Yoshinori Kojima,Chikako Maruyama,Maki Hayashi,Michimi Itou,Katsuya Urakami

    OBJECTIVE We examined the benefits of a community-based program combining physical exercise, cognitive training, and education on dementia and lifestyle habits. METHODS This crossover open-label trial included 141 community-dwelling elderly people with suspected mild cognitive decline (MCD). Subjects were assigned to a 6-month intervention-first/6-month observation-second (INT-OBS) group or an OBS-INT

    更新日期:2020-02-18
  • Transcranial magnetic stimulation tracks subminute changes in cortical excitability during propofol anesthesia.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-15
    Roman Gersner,Carmen Paredes,Mustafa Q Hameed,Sameer C Dhamne,Alvaro Pascual-Leone,Alexander Rotenberg

    Automated anesthesia systems that continuously monitor cortical excitability (CE) changes to govern drug infusion rates, are desirable. Paired-pulse transcranial magnetic stimulation (ppTMS), with electromyography (EMG), provides noninvasive CE measures. We tested whether, and with what temporal resolution, ppTMS-EMG detects dose-dependent CE in rats anesthetized with continuous intravenous propofol

    更新日期:2020-02-18
  • Nonmercaptalbumin as an oxidative stress marker in Parkinson's and PARK2 disease.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-14
    Shin-Ichi Ueno,Taku Hatano,Ayami Okuzumi,Shinji Saiki,Yutaka Oji,Akio Mori,Takahiro Koinuma,Motoki Fujimaki,Haruka Takeshige-Amano,Akihide Kondo,Naoyuki Yoshikawa,Takahiro Nojiri,Makoto Kurano,Keiko Yasukawa,Yutaka Yatomi,Hitoshi Ikeda,Nobutaka Hattori

    OBJECTIVE To investigate the oxidized albumin ratio, which is the redox ratio of human nonmercaptalbumin (HNA) to serum albumin (%HNA), as a biomarker in idiopathic Parkinson's disease (iPD) and related neurodegenerative disorders. METHODS This prospective study enrolled 216 iPD patients, 15 patients with autosomal recessive familial PD due to parkin mutations (PARK2), 30 multiple system atrophy (MSA)

    更新日期:2020-02-18
  • Rhythm disturbances as a potential early marker of Parkinson's disease in idiopathic REM sleep behavior disorder.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-14
    Valérie Cochen De Cock,Delphine de Verbizier,Marie Christine Picot,Loïc Damm,Beatriz Abril,Florence Galtier,Valérie Driss,Cindy Lebrun,Nicolas Pageot,Aurélie Giordano,Chloé Gonzalvez,Pascale Homeyer,Bertrand Carlander,Giovanni Castelnovo,Christian Geny,Benoit Bardy,Simone Dalla Bella

    OBJECTIVE We aimed to identify timing distortions in production and perception of rhythmic events in patients with idiopathic REM sleep behavior disorder (iRBD) as early markers of Parkinson's disease (PD). METHODS Rhythmic skills, clinical characteristics, dysautonomia, depression, and olfaction were compared in 97 participants, including 21 participants with iRBD, 38 patients with PD, and 38 controls

    更新日期:2020-02-14
  • White matter hyperintensities and risk of levodopa-induced dyskinesia in Parkinson's disease.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-07
    Seok Jong Chung,Han Soo Yoo,Yang Hyun Lee,Jin Ho Jung,KyoungWon Baik,Byoung Seok Ye,Young H Sohn,Phil Hyu Lee

    OBJECTIVE To investigate whether the burden of white matter hyperintensities (WMHs) is associated with the risk of developing levodopa-induced dyskinesia (LID) in Parkinson's disease (PD). METHODS According to the Clinical Research Center for Dementia of South Korea WMH visual rating scale, 336 patients with drug-naïve early stage PD (follow-up >3 years) were divided into two groups of PD with minimal

    更新日期:2020-02-10
  • Prognostic value of amplitude-integrated EEG in neonates with high risk of neurological sequelae.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-07
    Xiao Yuan,Wenqing Kang,Juan Song,Jing Guo,Lanlan Guo,Ruili Zhang,Shasha Liu,Yaodong Zhang,Dapeng Liu,Yong Wang,Xue Ding,Huimin Dong,Xi Chen,Yanchao Cheng,Xiaoli Zhang,Falin Xu,Changlian Zhu

    OBJECTIVE To determine the efficacy and the prognostic value of amplitude-integrated electroencephalography (aEEG) in term and near-term neonates with high risk of neurological sequelae. METHODS Infants of ≥35 weeks of gestation diagnosed with neonatal encephalopathy or with high risk of brain injury were included. All eligible infants underwent aEEG within 6 h after clinical assessment. The infants

    更新日期:2020-02-07
  • Cognition in multiple system atrophy: a single-center cohort study.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-07
    Sabine Eschlböck,Margarete Delazer,Florian Krismer,Thomas Bodner,Alessandra Fanciulli,Beatrice Heim,Antonio Heras Garvin,Christine Kaindlstorfer,Elfriede Karner,Katherina Mair,Christoph Rabensteiner,Cecilia Raccagni,Klaus Seppi,Werner Poewe,Gregor K Wenning

    OBJECTIVE Cognitive impairment in multiple system atrophy (MSA) is common, but remain poorly characterized. We evaluated cognitive and behavioral features in MSA patients and assessed between-group differences for MSA subtypes and the effect of orthostatic hypotension (OH) on cognition. METHODS This retrospective study included 54 patients with clinical diagnosis of possible and probable MSA referred

    更新日期:2020-02-07
  • Visual spatial learning outcomes for clinical trials in neurofibromatosis type 1.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-05
    Nicole J Ullrich,Jonathan M Payne,Karin S Walsh,Gary Cutter,Roger Packer,Kathryn North,Celiane Rey-Casserly,

    Cognitive problems are common in children with neurofibromatosis type 1, representing a significant source of lifelong morbidity. Assessment of cognitive function has been challenging in the setting of clinical trials. Spatial learning deficits may be an important target for cognitive interventions. We leveraged a large, international cognitive study in affected children with NF1 treated with lovastatin

    更新日期:2020-02-06
  • A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-05
    Christophe Carreau,Timothée Lenglet,Isabelle Mosnier,Ghizlene Lahlou,Guillaume Fargeot,Nicolas Weiss,Sophie Demeret,François Salachas,Alice Veauville-Merllié,Cécile Acquaviva,Yann Nadjar

    Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We describe a 18-year-old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs

    更新日期:2020-02-06
  • New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-05
    Wo-Tu Tian,Li-Hua Liu,Hai-Yan Zhou,Chao Zhang,Fei-Xia Zhan,Ze-Yu Zhu,Sheng-Di Chen,Xing-Hua Luan,Li Cao

    OBJECTIVE To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype-genotype relationship. METHODS Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atrophy. Patient 2 is a 48-year-old woman with adult-onset progressive weakness, lower

    更新日期:2020-02-06
  • The feasibility of using exoskeletal-assisted walking with epidural stimulation: a case report study.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-02-05
    Ashraf S Gorgey,Satinder Gill,Matthew E Holman,John C Davis,Roozbeh Atri,Ou Bai,Lance Goetz,Denise L Lester,Robert Trainer,Timothy D Lavis

    Spinal cord epidural stimulation (SCES) exhibits a rehabilitation potential of restoring locomotion in individuals with spinal cord injury (SCI). However, this is linked to an intensive rehabilitation locomotion approach, which is impractical to apply among a large clinical SCI population. We, hereby, propose a rehabilitation approach of using SCES to enhance motor control during exoskeletal-assisted

    更新日期:2020-02-06
  • 更新日期:2020-02-01
  • Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-22
    Nicole I Wolf,Marjolein Breur,Bonnie Plug,Shanice Beerepoot,Aimee S R Westerveld,Diane F van Rappard,Sharon I de Vries,Maarten H P Kole,Adeline Vanderver,Marjo S van der Knaap,Caroline A Lindemans,Peter M van Hasselt,Jaap J Boelens,Ulrich Matzner,Volkmar Gieselmann,Marianna Bugiani

    OBJECTIVE In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration. This is the first study to define the effects and therapeutic mechanisms of hematopoietic stem cell transplantation on brain tissue of transplanted metachromatic

    更新日期:2020-01-23
  • CSF SerpinA1 in Creutzfeldt-Jakob disease and frontotemporal lobar degeneration.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-20
    Samir Abu-Rumeileh,Steffen Halbgebauer,Petra Steinacker,Sarah Anderl-Straub,Barbara Polischi,Albert C Ludolph,Sabina Capellari,Piero Parchi,Markus Otto

    OBJECTIVE SerpinA1 (alpha-1 antitrypsin) is an acute inflammatory protein, which seems to play a role in neurodegeneration and neuroinflammation. In Alzheimer's disease and synucleinopathies, SerpinA1 is overexpressed in the brain and the cerebrospinal fluid (CSF) showing abnormal patterns of its charge isoforms. To date, no comprehensive studies explored SerpinA1 CSF isoforms in Creutzfeldt-Jakob

    更新日期:2020-01-21
  • Early phase 2 trial of TAS-205 in patients with Duchenne muscular dystrophy.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-20
    Hirofumi Komaki,Yoshihiro Maegaki,Tsuyoshi Matsumura,Kazuhiro Shiraishi,Hiroyuki Awano,Akinori Nakamura,Satoru Kinoshita,Katsuhisa Ogata,Keiko Ishigaki,Shinji Saitoh,Michinori Funato,Satoshi Kuru,Takahiro Nakayama,Yasuyuki Iwata,Hiroyuki Yajima,Shin'ichi Takeda

    OBJECTIVE Duchenne muscular dystrophy (DMD) is a progressive muscular disease characterized by chronic cycles of inflammatory and necrotic processes. Prostaglandin D2 (PGD2 ) is produced by hematopoietic PGD synthase (HPGDS), which is pathologically implicated in muscle necrosis. This randomized, double-blind, placebo-controlled early phase 2 study (NCT02752048) aimed to assess the efficacy and safety

    更新日期:2020-01-21
  • Circulating ceramide ratios and risk of vascular brain aging and dementia.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-16
    Emer R McGrath,Jayandra J Himali,Vanessa Xanthakis,Meredith S Duncan,Jean E Schaffer,Daniel S Ory,Linda R Peterson,Charles DeCarli,Matthew P Pase,Claudia L Satizabal,Ramachandran S Vasan,Alexa S Beiser,Sudha Seshadri

    BACKGROUND We determined the association between ratios of plasma ceramide species of differing fatty-acyl chain lengths and incident dementia and Alzheimer's disease (AD) dementia in a large, community-based sample. METHODS We measured plasma ceramide levels in 1892 [54% women, mean age 70.1 (SD 6.9) yr.] dementia-free Framingham Offspring Study cohort participants between 2005 and 2008. We related

    更新日期:2020-01-17
  • An expanded parenchymal CD8+ T cell clone in GABAA receptor encephalitis.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-14
    Aline Bracher,Carmen Alcalá,Jaime Ferrer,Nico Melzer,Reinhard Hohlfeld,Bonaventura Casanova,Eduardo Beltrán,Klaus Dornmair

    The role of T cells in autoimmune encephalitis syndromes with autoantibodies against cell surface antigens is still enigmatic. Here we analyzed the T cell receptor repertoires of CD8+ and CD4+ T cells in a patient with "idiopathic" gamma-aminobutyric-acid-A receptor (GABAA -R) encephalitis by next-generation sequencing and single-cell analyses. We identified a CD8+ T cell clone that was strongly expanded

    更新日期:2020-01-15
  • Relapsing-remitting clinical course expands the phenotype of Aicardi-Goutières syndrome.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-10
    Jeffrey Lambe,Olwen C Murphy,Weiyi Mu,Krista Sondergaard Schatz,Kristin W Barañano,Arun Venkatesan

    Aicardi-Goutières syndrome (AGS) is a rare and likely underdiagnosed genetic leukoencephalopathy, typically presenting in infancy with encephalopathy and characteristic neuroimaging features, with residual static neurological deficits. We describe a patient who, following an initial presentation at the age of 12 months in keeping with AGS, exhibited a highly atypical relapsing course of neurological

    更新日期:2020-01-11
  • Genome sequencing in persistently unsolved white matter disorders.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-07
    Guy Helman,Bryan R Lajoie,Joanna Crawford,Asako Takanohashi,Marzena Walkiewicz,Egor Dolzhenko,Andrew M Gross,Vladimir G Gainullin,Stephen J Bent,Emma M Jenkinson,Sacha Ferdinandusse,Hans R Waterham,Imen Dorboz,Enrico Bertini,Noriko Miyake,Nicole I Wolf,Truus E M Abbink,Susan M Kirwin,Christina M Tan,Grace M Hobson,Long Guo,Shiro Ikegawa,Amy Pizzino,Johanna L Schmidt,Genevieve Bernard,Raphael Schiffmann

    Genetic white matter disorders have heterogeneous etiologies and overlapping clinical presentations. We performed a study of the diagnostic efficacy of genome sequencing in 41 unsolved cases with prior exome sequencing, resolving an additional 14 from an historical cohort (n = 191). Reanalysis in the context of novel disease-associated genes and improved variant curation and annotation resolved 64%

    更新日期:2020-01-08
  • Confounding effect of blood volume and body mass index on blood neurofilament light chain levels.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2020-01-01
    Ali Manouchehrinia,Fredrik Piehl,Jan Hillert,Jens Kuhle,Lars Alfredsson,Tomas Olsson,Ingrid Kockum

    Blood Neurofilament light chain (NfL) has been suggested as a promising biomarker in several neurological conditions. Since blood NfL is the consequence of leaked NfL from the cerebrospinal fluid, differences in individuals' Body Mass Index (BMI) or blood volume (BV) might affect its correlation to other biomarkers and disease outcomes. Here, we investigated the correlation between plasma NfL, BMI

    更新日期:2020-01-02
  • First FHM3 mouse model shows spontaneous cortical spreading depolarizations.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-27
    Nico A Jansen,Anisa Dehghani,Margot M L Linssen,Cor Breukel,Else A Tolner,Arn M J M van den Maagdenberg

    Here we show, for the first time, spontaneous cortical spreading depolarization (CSD) events - the electrophysiological correlate of the migraine aura - in animals by using the first generated familial hemiplegic migraine type 3 (FHM3) transgenic mouse model. The mutant mice express L263V-mutated α1 subunits in voltage-gated NaV 1.1 sodium channels (Scn1aL263V ). CSDs consistently propagated from visual

    更新日期:2019-12-27
  • Electrical impedance myography for reducing sample size in Duchenne muscular dystrophy trials.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-25
    Melanie L Leitner,Kush Kapur,Basil T Darras,Michele Yang,Brenda Wong,Laura Dalle Pazze,Julaine Florence,Martin Buck,Laura Freedman,Jose Bohorquez,Seward Rutkove,Craig Zaidman

    OBJECTIVE To evaluate the sensitivity of electrical impedance myography (EIM) to disease progression in both ambulatory and non-ambulatory boys with DMD. METHODS AND PARTICIPANTS A non-blinded, longitudinal cohort study of 29 ambulatory and 15 non-ambulatory boys with DMD and age-similar healthy boys. Subjects were followed for up to 1 year and assessed using the Myolex® mViewTM EIM system as part

    更新日期:2019-12-27
  • Length-dependent MRI of hereditary neuropathy with liability to pressure palsies.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-24
    Michael Pridmore,Ryan Castoro,Megan Simmons McCollum,Hakmook Kang,Jun Li,Richard Dortch

    OBJECTIVE Hereditary neuropathy with liability to pressure palsies (HNPP) is caused by heterozygous deletion of the peripheral myelin protein 22 (PMP22) gene. Patients with HNPP present multifocal, reversible sensory/motor deficits due to increased susceptibility to mechanical pressure. Additionally, age-dependent axonal degeneration is reported. We hypothesize that length-dependent axonal loss can

    更新日期:2019-12-25
  • Efficacy of atomoxetine versus midodrine for neurogenic orthostatic hypotension.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-19
    Jung-Ick Byun,Do-Yong Kim,Jangsup Moon,Hye-Rim Shin,Jun-Sang Sunwoo,Woo-Jin Lee,Han-Sang Lee,Kyung-Il Park,Soon-Tae Lee,Keun-Hwa Jung,Ki-Young Jung,Manho Kim,Sang Kun Lee,Kon Chu

    OBJECTIVE The efficacy and safety of 1-month atomoxetine and midodrine therapies were compared. Three-month atomoxetine and combination therapies were investigated for additional benefits. METHODS This prospective open-label randomized trial included 50 patients with symptomatic neurogenic orthostatic hypotension (nOH). The patients received either atomoxetine 18 mg daily or midodrine 5 mg twice daily

    更新日期:2019-12-20
  • A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-18
    Edgard Verdura,Agatha Schlüter,Gorka Fernández-Eulate,Raquel Ramos-Martín,Miren Zulaica,Laura Planas-Serra,Montserrat Ruiz,Stéphane Fourcade,Carlos Casasnovas,Adolfo López de Munain,Aurora Pujol

    OBJECTIVE To identify causative mutations in a patient affected by ataxia and spastic paraplegia. METHODS Whole-exome sequencing (WES) and whole-genome sequencing (WGS) were performed using patient's DNA sample. RT-PCR and cDNA Sanger sequencing were performed on RNA extracted from patient's fibroblasts, as well as western blot. RESULTS A novel missense variant in SPG7 (c.2195T> C; p.Leu732Pro) was

    更新日期:2019-12-19
  • Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-18
    Gilles Naeije,Vincent Wens,Nicolas Coquelet,Martin Sjøgård,Serge Goldman,Massimo Pandolfo,Xavier P De Tiège

    OBJECTIVE Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism. Here, we used magnetoencephalography (MEG) to characterize the main determinants of FRDA-related changes in intrinsic functional brain architecture. METHODS Five minutes

    更新日期:2019-12-19
  • MCF2 is linked to a complex perisylvian syndrome and affects cortical lamination.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-17
    Aude Molinard-Chenu,Joël Fluss,Sacha Laurent,Méryle Laurent,Michel Guipponi,Alexandre G Dayer

    The combination of congenital bilateral perisylvian syndrome (CBPS) with lower motor neuron dysfunction remains unusual and suggests a potential common genetic insult affecting basic neurodevelopmental processes. Here we identify a putatively pathogenic missense mutation in the MCF2 gene in a boy with CBPS. Using in utero electroporation to genetically manipulate cortical neurons during corticogenesis

    更新日期:2019-12-18
  • Novel mutation in optineurin causing aggressive ALS+/-frontotemporal dementia.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-15
    Shu-Man Feng,Chun-Hui Che,Shu-Yan Feng,Chang-Yun Liu,Liu-Yi Li,Yuan-Xiao Li,Hua-Pin Huang,Zhang-Yu Zou

    OBJECTIVE Mutations in optineurin (OPTN) have been identified in familial and sporadic amyotrophic lateral sclerosis (ALS). We screened a cohort of Chinese patients for mutations in optineurin. We also performed an extensive literatures review of all mutations in optineurin identified previously to detect genotype-phenotype associations. METHODS All 16 exons of the OPTN gene in a cohort of 15 familial

    更新日期:2019-12-17
  • Transmembrane protease serine 5: a novel Schwann cell plasma marker for CMT1A.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-12
    Hongge Wang,Matthew Davison,Kathryn Wang,Tai-He Xia,Martin Kramer,Katherine Call,Jun Luo,Xingyao Wu,Riccardo Zuccarino,Chelsea Bacon,Yunhong Bai,John J Moran,Laurie Gutmann,Shawna M E Feely,Tiffany Grider,Alexander M Rossor,Mary M Reilly,John Svaren,Michael E Shy

    OBJECTIVE Development of biomarkers for Charcot-Marie-Tooth (CMT) disease is critical for implementing effective clinical trials. The most common form of CMT, type 1A, is caused by a genomic duplication surrounding the PMP22 gene. A recent report (Neurology 2018;90:e518-3524) showed elevation of neurofilament light (NfL) in plasma of CMT1A disease patients, which correlated with disease severity. However

    更新日期:2019-12-13
  • High-resolution metabolomic profiling of Alzheimer's disease in plasma.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-11
    Megan M Niedzwiecki,Douglas I Walker,Jennifer Christina Howell,Kelly D Watts,Dean P Jones,Gary W Miller,William T Hu

    BACKGROUND Alzheimer's disease (AD) is a complex neurological disorder with contributions from genetic and environmental factors. High-resolution metabolomics (HRM) has the potential to identify novel endogenous and environmental factors involved in AD. Previous metabolomics studies have identified circulating metabolites linked to AD, but lack of replication and inconsistent diagnostic algorithms

    更新日期:2019-12-13
  • Nigrosome 1 imaging in REM sleep behavior disorder and its association with dopaminergic decline.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-09
    Thomas R Barber,Ludovica Griffanti,Kevin M Bradley,Daniel R McGowan,Christine Lo,Clare E Mackay,Michele T Hu,Johannes C Klein

    OBJECTIVES Rapid eye movement sleep behavior disorder (RBD) patients have a high risk of developing a Parkinsonian disorder, offering an opportunity for neuroprotective intervention. Predicting near-term conversion, however, remains a challenge. Dopamine transporter imaging, while informative, is expensive and not widely available. Here, we investigate the utility of susceptibility-weighted MRI (SWI)

    更新日期:2019-12-11
  • Pallidal versus subthalamic nucleus deep brain stimulation for levodopa-induced dyskinesia.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-08
    Shi-Ying Fan,Kai-Liang Wang,Wei Hu,Robert S Eisinger,Alexander Han,Chun-Lei Han,Qiao Wang,Shimabukuro Michitomo,Jian-Guo Zhang,Feng Wang,Adolfo Ramirez-Zamora,Fan-Gang Meng

    OBJECTIVE To compare the efficacy of subthalamic nucleus (STN) and globus pallidus internus (GPi) deep brain stimulation (DBS) on reducing levodopa-induced dyskinesia (LID) in Parkinson's disease, and to explore the potential underlying mechanisms. METHODS We retrospectively assessed clinical outcomes in 43 patients with preoperative LID who underwent DBS targeting the STN (20/43) or GPi (23/43). The

    更新日期:2019-12-09
  • RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-08
    Marisa I Mendes,Lydia M C Green,Enrico Bertini,Davide Tonduti,Chiara Aiello,Desiree Smith,Ettore Salsano,Shanice Beerepoot,Jozef Hertecant,Sarah von Spiczak,John H Livingston,Lisa Emrick,Jamie Fraser,Laura Russell,Genevieve Bernard,Stefania Magri,Daniela Di Bella,Franco Taroni,Mary K Koenig,Isabella Moroni,Gerarda Cappuccio,Nicola Brunetti-Pierri,Jullie Rhee,Bryce A Mendelsohn,Ingo Helbig,Katherine

    OBJECTIVE Biallelic variants in RARS1, encoding the cytoplasmic tRNA synthetase for arginine (ArgRS), cause a hypomyelinating leukodystrophy. This study aimed to investigate clinical, neuroradiological and genetic features of patients with RARS1-related disease, and to identify possible genotype-phenotype relationships. METHODS We performed a multinational cross-sectional survey among 20 patients with

    更新日期:2019-12-09
  • Neurofilament light is a treatment-responsive biomarker in CLN2 disease.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-08
    Yuanbin Ru,Carley Corado,Russell K Soon,Andrew C Melton,Adam Harris,Guoying K Yu,Nancy Pryer,John R Sinclair,Martin L Katz,Temitayo Ajayi,David Jacoby,Chris B Russell,Sanjay Chandriani

    OBJECTIVE Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is a rare, progressive, fatal neurodegenerative pediatric disorder resulting from deficiencies of the lysosomal enzyme tripeptidyl peptidase 1 that are caused by mutations in TPP1. Identifying biomarkers of CLN2 disease progression will be important in assessing the efficacy of therapeutic interventions for this disorder. Neurofilament

    更新日期:2019-12-09
  • Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-05
    Youjin Wang,Ana Best,Roberto Fernández-Torrón,Rotana Alsaggaf,Mikel Garcia-Puga,Casey L Dagnall,Belynda Hicks,Mone't Thompson,Ander Matheu Fernandez,Miren Zulaica Ijurco,Mark H Greene,Adolfo Lopez de Munain,Shahinaz M Gadalla

    Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in baseline leukocyte relative telomere length (RTL) was noted, the data suggested an

    更新日期:2019-12-06
  • Investigation of patient and observer agreement on description of seizures at initial clinical visit.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-05
    Maha N Saleem,Christopher A Arencibia,Kevin McKenna,Sabrina Cristofaro,Kamil Detyniecki,Daniel Friedman,Jacqueline French,Hal Blumenfeld,

    There have been few studies of agreement between seizure descriptions obtained from patients and observers. We investigated 220 patients and observers who completed structured questionnaires about patients' semiological seizure features at the initial clinical visit. Inter-rater reliability was assessed using Cohen's kappa and indices of positive and negative agreement. Patients and observers had excellent

    更新日期:2019-12-06
  • Reproducibility of cognitive endpoints in clinical trials: lessons from neurofibromatosis type 1.
    Ann. Clin. Transl. Neur. (IF 4.656) Pub Date : 2019-12-03
    Jonathan M Payne,Stephen J C Hearps,Karin S Walsh,Iris Paltin,Belinda Barton,Nicole J Ullrich,Kristina M Haebich,David Coghill,Gerard A Gioia,Alan Cantor,Gary Cutter,James H Tonsgard,David Viskochil,Celiane Rey-Casserly,Elizabeth K Schorry,Joseph D Ackerson,Laura Klesse,Michael J Fisher,David H Gutmann,Tena Rosser,Roger J Packer,Bruce Korf,Maria T Acosta,Kathryn N North,

    OBJECTIVE Rapid developments in understanding the molecular mechanisms underlying cognitive deficits in neurodevelopmental disorders have increased expectations for targeted, mechanism-based treatments. However, translation from preclinical models to human clinical trials has proven challenging. Poor reproducibility of cognitive endpoints may provide one explanation for this finding. We examined the

    更新日期:2019-12-04
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