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Phenotypic Heterogeneity in Patients with Mutations in the Mitochondrial Complex I Assembly Gene NDUFAF5 Mov. Disord. (IF 8.6) Pub Date : 2023-09-27 Pin-Shiuan Chen, Ni-Chung Lee, Chieh-Ju Sung, Ya-Wen Liu, Wen-Chin Weng, Pi-Chuan Fan, Wang-Tso Lee, Yin-Hsiu Chien, Chao-Szu Wu, Yueh-Feng Sung, Ming-Chen Tsai, Yi-Chung Lee, Hsueh-Wen Hsueh, Sabrina Mai-Yi Fan, Meng-Chen Wu, Hsun Li, Huan-Yun Chen, Han-I Lin, Chih-Hsin Ou-Yang, Wuh-Liang Hwuh, Chin-Hsien Lin
Rare mutations in NADH:ubiquinone oxidoreductase complex assembly factor 5 (NDUFAF5) are linked to Leigh syndrome.
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Harmonizing Genetic Testing for Parkinson's Disease: Results of the PARKNET Multicentric Study Mov. Disord. (IF 8.6) Pub Date : 2023-09-26 Alessio Di Fonzo, Marco Percetti, Edoardo Monfrini, Ilaria Palmieri, Alberto Albanese, Micol Avenali, Anna Bartoletti-Stella, Fabio Blandini, Gloria Brescia, Giovanna Calandra-Buonaura, Rosa Campopiano, Sabina Capellari, Isabel Colangelo, Giacomo Pietro Comi, Giada Cuconato, Rosangela Ferese, Caterina Galandra, Stefano Gambardella, Barbara Garavaglia, Andrea Gaudio, Emiliano Giardina, Federica Invernizzi
Early-onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next-generation sequencing (NGS) of PD-associated multigene panels. However, NGS interpretation can be challenging in a diagnostic setting, and few studies have addressed this issue so far.
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Sex Distribution of GBA1 Variants Carriers with Dementia with Lewy Bodies and Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-09-22 Marco Toffoli, Anthony H.V. Schapira, Christos Proukakis
A recent article by Ortega et al1 reported sex-specific differences in GBA1-related Parkinson's disease (PD), with an excess of females in carriers of severe variants and of males in carriers of mild variants, although these differences were not confirmed in subsequent reports.2, 3 They hypothesized that this difference might be because of a higher risk of male carriers of GBA1 severe variants developing
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Bidirectional Transcription at the PPP2R2B Gene Locus in Spinocerebellar Ataxia Type 12 Mov. Disord. (IF 8.6) Pub Date : 2023-09-21 Chengqian Zhou, Hans B. Liu, Fatemeh Jahanbakhsh, Leon Deng, Bin Wu, Mingyao Ying, Russell L. Margolis, Pan P. Li
Spinocerebellar ataxia type 12 (SCA12) is a neurodegenerative disease caused by expansion of a CAG repeat in the PPP2R2B gene.
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Between Nothing and Everything: Phenomenology in Movement Disorders Mov. Disord. (IF 8.6) Pub Date : 2023-09-21 Anna Sadnicka, Mark John Edwards
In movement disorders, phenomenology refers to the science and art of classifying abnormal movements. Traditional clinical practice has been based on phenotype-driven investigation, diagnosis, and management. However, many have questioned our continued reliance on phenotype. Phenotype has been repeatedly demonstrated to be an unreliable guide to the precise lower-level pathophysiological process. After
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Proprioceptive Modulation of Pallidal Physiology in Cervical Dystonia Mov. Disord. (IF 8.6) Pub Date : 2023-09-13 Alexey Sedov, Prajakta Joshi, Ulia Semenova, Svetlana Usova, Svetlana Asriyants, Anna Gamaleya, Alexey Tomskiy, Hyder A. Jinnah, Aasef G. Shaikh
There is a growing body of evidence suggesting that botulinum toxin can alter proprioceptive feedback and modulate the muscle-spindle output for the treatment of dystonia. However, the mechanism for this modulation remains unclear.
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Astrocyte Responses Influence Local Effects of Whole-Brain Magnetic Stimulation in Parkinsonian Rats Mov. Disord. (IF 8.6) Pub Date : 2023-09-12 Giuseppina Natale, Micol Colella, Maria De Carluccio, Daniele Lelli, Alessandra Paffi, Filippo Carducci, Francesca Apollonio, Daniela Palacios, Maria Teresa Viscomi, Micaela Liberti, Veronica Ghiglieri
Excessive glutamatergic transmission in the striatum is implicated in Parkinson's disease (PD) progression. Astrocytes maintain glutamate homeostasis, protecting from excitotoxicity through the glutamate–aspartate transporter (GLAST), whose alterations have been reported in PD. Noninvasive brain stimulation using intermittent theta-burst stimulation (iTBS) acts on striatal neurons and glia, inducing
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Prediagnostic Blood Metal Levels and the Risk of Parkinson's Disease: A Large European Prospective Cohort Mov. Disord. (IF 8.6) Pub Date : 2023-09-07 Yujia Zhao, Anushree Ray, Karin Broberg, Maria Kippler, Christina M. Lill, Paolo Vineis, Verena A. Katzke, Miguel Rodriguez-Barranco, María-Dolores Chirlaque, Marcela Guevara, Jesús-Humberto Gómez, Johnni Hansen, Salvatore Panico, Lefkos T. Middleton, Giovanna Masala, Valeria Pala, Ana Vinagre-Aragon, Maurizio Zibetti, Roel Vermeulen, Susan Peters
Metals have been postulated as environmental concerns in the etiology of Parkinson's disease (PD), but metal levels are typically measured after diagnosis, which might be subject to reverse causality.
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Dopamine Transporter Availability in Early Parkinson's Disease is Dependent on Sunlight Exposure Mov. Disord. (IF 8.6) Pub Date : 2023-09-05 Jan Booij, Sem P. Tellier, John Seibyl, Chris Vriend
Preliminary studies suggested seasonality of dopaminergic functioning, but it is unknown whether dopamine transporter (DAT) expression in humans is also dependent on the seasons. We, therefore, investigated seasonal and sunlight-dependent effects on DAT availability in early Parkinson's disease (PD) patients and healthy controls.
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Isolation of L1CAM-Extracellular Vesicles Reveals Signs of Insulin Resistance in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-09-05 Ioanna Markaki, Wojciech Paslawski, Theodora Ntetsika, Lisa Engesvik, Sergiu-Bogdan Catrina, Per Svenningsson
Similar molecular processes have been identified in the development of Parkinson's disease (PD) and type 2 diabetes mellitus (T2DM).1 Insulin resistance is a central feature of T2DM pathology, and recent evidence supports its occurrence in the brain and its contribution in neurodegeneration.2 Insulin receptor substrate (IRS)-1 is the initial node in the pathway of insulin signaling and its activity
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An Autopsy Series of Seven Cases of VPS13A Disease (Chorea-Acanthocytosis) Mov. Disord. (IF 8.6) Pub Date : 2023-09-05 Ricky M. Ditzel, Ruth H. Walker, Melissa J. Nirenberg, Amber M. Tetlow, Kurt Farrell, Kourtni J. Lind-Watson, Emma L. Thorn, Diana K. Dangoor, Ronald Gordon, Claudia De Sanctis, Brandon Barton, Barbara I. Karp, Alana Kirby, Debra J. Lett, Karin Mente, David K. Simon, Antonio Velayos-Baeza, Gabriel Miltenberger-Miltenyi, Jack Humphrey, John F. Crary
Vacuolar protein sorting 13 homolog A (VPS13A) disease, historically known as chorea-acanthocytosis, is a rare neurodegenerative disorder caused by biallelic mutations in VPS13A, usually resulting in reduced or absent levels of its protein product, VPS13A. VPS13A localizes to contact sites between subcellular organelles, consistent with its recently identified role in lipid transfer between membranes
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Correction to “Olfactory Neuron Substance P Is Overexpressed in Parkinson's Disease Reflecting Gut Dysfunction” Mov. Disord. (IF 8.6) Pub Date : 2023-09-05
Schirinzi T, Maftei D, Grillo P, et al., Olfactory Neuron Substance P is Overexpressed in Parkinson's Disease Reflecting Gut Dysfunction. Mov Disord 2023;38:1364–1366. In the ‘Funding agencies’ and ‘Acknowledgments’ sections of the above article, the grant from Sapienza University Intramural Grant “Grandi Progetti” lacks the number: RG12117A7779E023. We apologize for this error.
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Automatic covariance pattern analysis outperforms visual reading of 18F-fluorodeoxyglucose-positron emission tomography (FDG-PET) in variant progressive supranuclear palsy Mov. Disord. (IF 8.6) Pub Date : 2023-09-01 Ralph Buchert, Florian Wegner, Hans-Jürgen Huppertz, Georg Berding, Matthias Brendel, Ivayla Apostolova, Carsten Buhmann, Alexander Dierks, Sabrina Katzdobler, Martin Klietz, Johannes Levin, Nima Mahmoudi, Andreas Rinscheid, Sophia Rogozinski, Jost-Julian Rumpf, Christine Schneider, Sophia Stöcklein, Phoebe G. Spetsieris, David Eidelberg, Mike P. Wattjes, Osama Sabri, Henryk Barthel, Günter Höglinger
To date, studies on positron emission tomography (PET) with 18F-fluorodeoxyglucose (FDG) in progressive supranuclear palsy (PSP) usually included PSP cohorts overrepresenting patients with Richardson's syndrome (PSP-RS).
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The Impact of Sex-Specific Survival on the Incidence of Dementia in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-09-01 Anne Fink, Richard Dodel, Daniela Georges, Gabriele Doblhammer
The aim of our study is to analyze sex-specific patterns of Parkinson's disease dementia (PDD) incidence. We are investigating the extent to which sex differences in survival after initial Parkinson's disease (PD) diagnosis influence differences in PDD risk among PD patients.
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Cortical Disinhibition Drives Freezing of Gait in Parkinson's Disease and an Exploratory Repetitive Transcranial Magnetic Stimulation Study Mov. Disord. (IF 8.6) Pub Date : 2023-08-30 Huimin Sun, Caiting Gan, Lina Wang, Min Ji, Xingyue Cao, Yongsheng Yuan, Heng Zhang, Aidi Shan, Mengxi Gao, Kezhong Zhang
Dysfunction of the primary motor cortex, participating in regulation of posture and gait, is implicated in freezing of gait (FOG) in Parkinson's disease (PD).
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Cerebellar Modulation of Sensorimotor Associative Plasticity Is Impaired in Cervical Dystonia Mov. Disord. (IF 8.6) Pub Date : 2023-08-28 Kai Grimm, Lisa Prilop, Gerhard Schön, Mathias Gelderblom, Jonas Misselhorn, Christian Gerloff, Simone Zittel
In recent years, cervical dystonia (CD) has been recognized as a network disorder that involves not only the basal ganglia but other brain regions, such as the primary motor and somatosensory cortex, brainstem, and cerebellum. So far, the role of the cerebellum in the pathophysiology of dystonia is only poorly understood.
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Nuclear Imaging Data-Driven Classification of Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-08-28 Tomoko Totsune, Toru Baba, Yoko Sugimura, Hideki Oizumi, Hiroyasu Tanaka, Toshiaki Takahashi, Masaru Yoshioka, Ken-ichi Nagamatsu, Atsushi Takeda
Parkinson's disease (PD) is a heterogeneous neurodegenerative disorder characterized by motor and nonmotor symptoms. Several features have prognostic importance and have been used as key indicators for identifying clinical subtypes. However, the symptom-based classification approach has limitations with respect to the stability of the obtained subtypes.
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GNAO1 Haploinsufficiency: The Milder End of the GNAO1 Phenotypic Spectrum Mov. Disord. (IF 8.6) Pub Date : 2023-08-26 Serena Galosi, Maria Novelli, Martina Di Rocco, Elisabetta Flex, Elena Messina, Luca Pollini, Elena Parrini, Francesco Pisani, Renzo Guerrini, Vincenzo Leuzzi, Simone Martinelli
GNAO1 variants are typically associated with severe, early-onset movement disorders (MDs) with life-threatening and drug-resistant paroxysmal exacerbations, neurodevelopmental disorders, and epilepsy. Recently, the phenotypic spectrum has broadened to include milder phenotypes with late-onset dystonia, minor cognitive impairment, and other neurological signs, including parkinsonism and myoclonus. GNAO1
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Fiber-Specific White Matter Alterations in Parkinson's Disease Patients with GBA Gene Mutations Mov. Disord. (IF 8.6) Pub Date : 2023-08-22 Christina Andica, Koji Kamagata, Wataru Uchida, Yuya Saito, Kaito Takabayashi, Akifumi Hagiwara, Haruka Takeshige-Amano, Taku Hatano, Nobutaka Hattori, Shigeki Aoki
Patients with Parkinson's disease (PD) carrying GBA gene mutations (GBA-PD) have a more aggressive disease course than those with idiopathic PD (iPD).
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Autosomal Dominant MPAN: Mosaicism Expands the Clinical Spectrum to Atypical Late-Onset Phenotypes Mov. Disord. (IF 8.6) Pub Date : 2023-08-21 Chloé Angelini, Christelle Marie Durand, Patricia Fergelot, Julie Deforges, Anne Vital, Patrice Menegon, Elizabeth Sarrazin, Rémi Bellance, Stéphane Mathis, Victoria Gonzalez, Mathilde Renaud, Solène Frismand, Emmanuelle Schmitt, Marie Rouanet, Lydie Burglen, Brigitte Chabrol, Béatrice Desnous, Benoît Arveiler, Giovanni Stevanin, Isabelle Coupry, Cyril Goizet
Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN typically appears in the first two decades of life and presents with progressive dystonia-parkinsonism, lower motor neuron signs, optic atrophy, and abnormal iron deposits predominantly in the basal ganglia. MPAN, initially considered as a strictly autosomal recessive disease (AR), turned
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Plant-Based Dietary Patterns and Parkinson's Disease: A Prospective Analysis of the UK Biobank Mov. Disord. (IF 8.6) Pub Date : 2023-08-21 Anna Tresserra-Rimbau, Alysha S. Thompson, Nicola Bondonno, Amy Jennings, Tilman Kühn, Aedín Cassidy
Plant-based diets have been associated with a lower risk of several chronic diseases, but the relationship with PD is unknown.
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Bone Mineral Density and the Risk of Parkinson's Disease in Postmenopausal Women Mov. Disord. (IF 8.6) Pub Date : 2023-08-21 Kye-Yeung Park, Jin-Hyung Jung, Hwan-Sik Hwang, Hoon-Ki Park, Kyungdo Han, Ga Eun Nam
Whether bone mineral density (BMD) is related to the risk of Parkinson's disease (PD) is unclear.
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27-Hydroxycholesterol Drives the Spread of α-Synuclein Pathology in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-08-18 Lijun Dai, Jiannan Wang, Xingyu Zhang, Mingmin Yan, Lingyan Zhou, Guoxin Zhang, Lanxia Meng, Liam Chen, Xuebing Cao, Zhaohui Zhang, Gaohua Wang, Zhentao Zhang
The accumulation and aggregation of α-synuclein (α-Syn) are characteristic of Parkinson's disease (PD). Epidemiological evidence indicates that hyperlipidemia is associated with an increased risk of PD. The levels of 27-hydroxycholesterol (27-OHC), a cholesterol oxidation derivative, are increased in the brain and cerebrospinal fluid of patients with PD. However, whether 27-OHC plays a role in α-Syn
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Mild Motor Signs in Healthy Aging Are Associated with Lower Synaptic Density in the Brain Mov. Disord. (IF 8.6) Pub Date : 2023-08-13 Margot G.A. Van Cauwenberge, Aline Delva, Thomas Vande Casteele, Maarten Laroy, Ahmed Radwan, Kristof Vansteelandt, Jan Van den Stock, Filip Bouckaert, Koen Van Laere, Louise Emsell, Wim Vandenberghe, Mathieu Vandenbulcke
To investigate whether mild motor signs (MMS) in old age correlate with synaptic density in the brain.
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Comment on “Summing MDS-UPDRS Parts 1 + 2 (Nonmotor and Motor Experience of Daily Living): The Patient's Voice” Mov. Disord. (IF 8.6) Pub Date : 2023-08-11 Norbert Kovács, Zsuzsanna Aschermann, Márk Harmat, Mirtill Rohonczi, József Janszky, Dávid Pintér
We read with great interest the article by Zou and colleagues titled “Summing MDS-UPDRS Parts 1 + 2 (Nonmotor and Motor Experience of Daily Living): The Patient's Voice.”1 In the past few years, the Movement Disorder Society–sponsored revision of the Unified Parkinson's Disease Rating Scale (MDS-UPDRS),2 developed according to clinimetric guidelines and validated in several languages,3 has become an
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Comment on Martino et al. “Scales for Antipsychotic-Associated Movement Disorders: Systematic Review, Critique, and Recommendations” Mov. Disord. (IF 8.6) Pub Date : 2023-08-11 Anton J.M. Loonen
In a recent article, Martino and colleagues1 describe the results of a systematic literature review of scales for measuring drug-induced movement disorders in people with severe mental illness (SMI). The article takes the starting point of the neurologist, and the lack of experiential knowledge about the conditions under which the scales are used provides quite a few misses. For example, the plea to
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Disease Progression in Multiple System Atrophy: The Value of Clinical Cohorts with Long Follow-Up Mov. Disord. (IF 8.6) Pub Date : 2023-08-11 Tiphaine Saulnier, Margherita Fabbri, Anne Pavy-Le Traon, Mélanie Le Goff, Catherine Helmer, Patrice Péran, Wassilios G. Meissner, Olivier Rascol, Alexandra Foubert-Samier, Cécile Proust-Lima
In their recent publication, Kühnel et al1 described the progression of multiple system atrophy (MSA) in the European MSA study group (EMSA-SG) cohort via an innovative disease progression model (DPM). DPMs are valuable longitudinal methods to describe MSA natural history while accounting for data uncertainty (delayed diagnosis, uncertain timing, heterogeneous staging).2 The mean trajectories of clinical
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Reply to Letter to the Editor: “Disease Progression in Multiple System Atrophy: The Value of Clinical Cohorts with Long Follow-Up” Mov. Disord. (IF 8.6) Pub Date : 2023-08-11 Lars Lau Raket, Ingeborg Helbech Hansen, Line Kühnel, Daniel Oudin Åström, Anna-Karin Berger, Florian Krismer, Gregor K. Wenning, Klaus Seppi, Werner Poewe, José Luis Molinuevo
We are pleased to read the letter by Saulnier and colleagues related to our article “Disease Progression in Multiple System Atrophy—Novel Modeling Framework and Predictive Factors,”1 and we thank the authors for the impressive work they have done to replicate and expand on our research in a larger and more contemporary cohort. As Saulnier and colleagues rightly point out, our study relied on a cohort
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Prevalence and Incidence of Huntington's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-08-11 Mark Strong, Oliver W. Quarrell
We read with interest the updated review of the epidemiology of Huntington's disease (HD) by Medina et al.1 In their article, the authors present results from a series of meta-analyses of prevalence and incidence studies conducted in populations in Africa, Asia, Europe, and the Americas between 2011 and 2022. Worldwide pooled estimates are reported for prevalence and incidence, along with separate
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Racial Differences in the Presentation and Progression of Huntington's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-08-10 Danielle A. Buchanan, Amy E. Brown, Elicia C. Osigwe, Anna C. Pfalzer, Leah G. Mann, Yan Yan, Hakmook Kang, Daniel O. Claassen
Huntington's disease (HD) is an autosomal dominant neurodegenerative disease that predominantly impacts a Caucasian population, but few efforts have explored racial differences in presentation and progression.
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Task-Related Reorganization of Cognitive Network in Parkinson's Disease Using Electrophysiology Mov. Disord. (IF 8.6) Pub Date : 2023-08-08 May Bar-On, Shaked Baharav, Zoya Katzir, Anat Mirelman, Ronen Sosnik, Inbal Maidan
Cognitive deficits in Parkinson's disease (PD) patients are well described, however, their underlying neural mechanisms as assessed by electrophysiology are not clear.
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DNA Methylation Age Acceleration Is Not Associated with Age of Onset in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-08-07 Johannes J. Gaare, Kim Brügger, Gonzalo S. Nido, Charalampos Tzoulis
Epigenetic clocks using DNA methylation (DNAm) to estimate biological age have become popular tools in the study of neurodegenerative diseases. Notably, several recent reports have shown a strikingly similar inverse relationship between accelerated biological aging, as measured by DNAm, and the age of onset of several neurodegenerative disorders, including Parkinson's disease (PD). Common to all of
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Deep Brain Stimulation of the Globus Pallidus Internus and Externus in Multiple System Atrophy Mov. Disord. (IF 8.6) Pub Date : 2023-08-06 Daniel G. Di Luca, Carolina Ramirez-Gomez, Jurgen Germann, Brendan Santyr, Alexandre Boutet, Luka Milosevic, Anthony E. Lang, Suneil K. Kalia, Andres M. Lozano, Alfonso Fasano
Multiple system atrophy with parkinsonism (MSA-P) is a progressive condition with no effective treatment.
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Brain MRI in Progressive Supranuclear Palsy with Richardson's Syndrome and Variant Phenotypes Mov. Disord. (IF 8.6) Pub Date : 2023-08-06 Mike P. Wattjes, Hans-Jürgen Huppertz, Nima Mahmoudi, Sophia Stöcklein, Sophia Rogozinski, Florian Wegner, Martin Klietz, Ivayla Apostolova, Johannes Levin, Sabrina Katzdobler, Carsten Buhmann, Andrea Quattrone, Georg Berding, Matthias Brendel, Henryk Barthel, Osama Sabri, Günter Höglinger, Ralph Buchert
Brain magnetic resonance imaging (MRI) is used to support the diagnosis of progressive supranuclear palsy (PSP). However, the value of visual descriptive, manual planimetric, automatic volumetric MRI markers and fully automatic categorization is unclear, particularly regarding PSP predominance types other than Richardson's syndrome (RS).
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Post-Mortem Studies of Neurturin Gene Therapy for Parkinson's Disease: Two Subjects with 10 Years CERE120 Delivery Mov. Disord. (IF 8.6) Pub Date : 2023-08-06 Yaping Chu, Jeffrey H. Kordower
Neurturin is a member of the glial cell line-derived neurotrophic factor family of neurotrophic factors and has the potential to protectdegenerating dopaminergic neurons.
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Focused Ultrasound Thalamotomy for Tremor in Parkinson's Disease: Outcomes in a Large, Prospective Cohort Mov. Disord. (IF 8.6) Pub Date : 2023-08-04 Melissa M.J. Chua, Sarah E. Blitz, Patrick R. Ng, David J. Segar, Nathan J. McDannold, P. Jason White, Sarah Christie, Michael T. Hayes, John D. Rolston, G. Rees Cosgrove
Magnetic resonance guided focused ultrasound (MRgFUS) is United States Food and Drug Administration approved for the treatment of tremor-dominant Parkinson's disease (TdPD), but only limited studies have been described in practice.
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Genome-Wide Meta-Analysis of Cerebrospinal Fluid Biomarkers in Alzheimer's Disease and Parkinson's Disease Cohorts Mov. Disord. (IF 8.6) Pub Date : 2023-08-04 Michael Ta, Cornelis Blauwendraat, Tarek Antar, Hampton L. Leonard, Andrew B. Singleton, Mike A. Nalls, Hirotaka Iwaki
Amyloid-β, phosphorylated tau (p-tau), and total tau (t-tau) in cerebrospinal fluid are established biomarkers for Alzheimer's disease (AD). In other neurodegenerative diseases, such as Parkinson's disease (PD), these biomarkers have also been found to be altered, and the molecular mechanisms responsible for these alterations are still under investigation. Moreover, the interplay between these mechanisms
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Shared Genetics and Comorbid Genes of Amyotrophic Lateral Sclerosis and Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-08-03 Ye Tian, Guochen Ma, Haoqi Li, Yaxian Zeng, Siquan Zhou, Xiaoyu Wang, Shufang Shan, Yujie Xu, Jingyuan Xiong, Guo Cheng
Comorbidity exists between amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD), but the role of genetic factors is unclear.
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Deep Brain Stimulation as an Exclusion Criterion in Parkinson's Disease Studies: Time to Rethink? Mov. Disord. (IF 8.6) Pub Date : 2023-08-02 Camila Aquino, Lan Luo, Pinky Agarwal, Khushi Garg, Joshua M. Rosenow, Daniel M. Corcos, Svjetlana Miocinovic, Joohi Jimenez-Shahed
Deep brain stimulation (DBS) has been part of the Parkinson's Disease (PD) toolkit for more than 20 years.1 Since then, an increasing number of patients have received DBS for management of PD motor fluctuations, parkinsonian tremor, and dyskinesias.2 As clinical experience with DBS for PD has deepened and more results such as the 2013 publication of the EARLYSTIM trial have supported earlier use of
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As Frequent as Polyglutamine Spinocerebellar Ataxias: SCA27B in a Large German Autosomal Dominant Ataxia Cohort Mov. Disord. (IF 8.6) Pub Date : 2023-08-01 Holger Hengel, David Pellerin, Carlo Wilke, Zofia Fleszar, Bernard Brais, Tobias Haack, Andreas Traschütz, Ludger Schöls, Matthis Synofzik
Intronic GAA repeat expansions in the fibroblast growth factor 14 gene (FGF14) have recently been shown to be a common cause of adult-onset degenerative ataxia (spinocerebellar ataxia 27B [SCA27B], MIM: 620174),1, 2 but frequencies in strictly consecutive SCA cohorts are unknown. Here we studied the relative frequencies of SCA27B in a cohort of genetically undetermined autosomal dominant cerebellar
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No Correlation between Plasma GPNMB Levels and Multiple System Atrophy in Chinese Cohorts Mov. Disord. (IF 8.6) Pub Date : 2023-07-27 Linlin Wan, You Fu, Zhao Chen, Zhe Long, Daji Chen, Xinrong Yuan, Sudan Zhu, Linliu Peng, Wuping Liu, Rong Qiu, Beisha Tang, Hong Jiang
Glycoprotein nonmetastatic melanoma protein B (GPNMB) has been demonstrated to mediate pathogenicity in Parkinson's disease (PD) through interactions with α-synuclein, and plasma GPNMB tended to be a novel biomarker for PD.
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Basal Forebrain Atrophy, Cortical Thinning, and Amyloid-β Status in Parkinson's disease-Related Cognitive Decline Mov. Disord. (IF 8.6) Pub Date : 2023-07-26 Miguel A. Labrador-Espinosa, Jesús Silva-Rodríguez, María Isabel Reina-Castillo, Pablo Mir, Michel J. Grothe
Degeneration of the cortically-projecting cholinergic basal forebrain (cBF) is a well-established pathologic correlate of cognitive decline in Parkinson's disease (PD). In Alzheimer's disease (AD) the effect of cBF degeneration on cognitive decline was found to be mediated by parallel atrophy of denervated cortical areas.
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Differential Implications of Cerebral Hypoperfusion and Hyperperfusion in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-07-25 Seong Ho Jeong, Su Hong Kim, Chan Wook Park, Hye Sun Lee, Phil Hyu Lee, Yun Joong Kim, Young H. Sohn, Yong Jeong, Seok Jong Chung
Patients with Parkinson's disease (PD) exhibit widespread brain perfusion changes.
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Temporal Signature of Task-Specificity in Isolated Focal Laryngeal Dystonia Mov. Disord. (IF 8.6) Pub Date : 2023-07-25 Stefan K. Ehrlich, Giovanni Battistella, Kristina Simonyan
Laryngeal dystonia (LD) is focal task-specific dystonia, predominantly affecting speech but not whispering or emotional vocalizations. Prior neuroimaging studies identified brain regions forming a dystonic neural network and contributing to LD pathophysiology. However, the underlying temporal dynamics of these alterations and their contribution to the task-specificity of LD remain largely unknown.
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Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction Mov. Disord. (IF 8.6) Pub Date : 2023-07-23 Philip Harrer, Matej Škorvánek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriam Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore R. Kumar, Niccolo E. Mencacci, Manju A. Kurian, Alessio Di Fonzo, Sylvia Boesch, Andrea A. Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard
Protein synthesis is a tightly controlled process, involving a host of translation-initiation factors and microRNA-associated repressors. Variants in the translational regulator EIF2AK2 were first linked to neurodevelopmental-delay phenotypes, followed by their implication in dystonia. Recently, de novo variants in EIF4A2, encoding eukaryotic translation initiation factor 4A isoform 2 (eIF4A2), have
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Interaction of Mitochondrial Polygenic Score and Lifestyle Factors in LRRK2 p.Gly2019Ser Parkinsonism Mov. Disord. (IF 8.6) Pub Date : 2023-07-21 Theresa Lüth, Carolin Gabbert, Sebastian Koch, Inke R. König, Amke Caliebe, Björn-Hergen Laabs, Faycel Hentati, Samia Ben Sassi, Rim Amouri, Malte Spielmann, Christine Klein, Anne Grünewald, Matthew J. Farrer, Joanne Trinh
A mitochondrial polygenic score (MGS) is composed of genes related to mitochondrial function and found to be associated with Parkinson's disease (PD) risk.
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Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic Paraplegia Mov. Disord. (IF 8.6) Pub Date : 2023-07-22 Julian E. Alecu, Afshin Saffari, Marvin Ziegler, Catherine Jordan, Amy Tam, Soyoung Kim, Edward Leung, Krzysztof Szczaluba, Hanna Mierzewska, Staci D. King, Filippo M. Santorelli, Grace Yoon, Bianca Trombetta, Pia Kivisäkk, Bo Zhang, Mustafa Sahin, Darius Ebrahimi-Fakhari
Adaptor protein complex 4-associated hereditary spastic paraplegia (AP-4-HSP) is caused by pathogenic biallelic variants in AP4B1, AP4M1, AP4E1, and AP4S1.
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Subthalamic Physiology in Genetic Subtypes of Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-07-21 Gian D. Pal, Fabian J. David, Jay L. Shils, Miranda J. Munoz, Mitra Afshari, Sepehr Sani, Leo Verhagen Metman, Daniel M. Corcos
We read with interest the recent article by Weill et al.1 The authors collected local field potential (LFP) activity during implantation of subthalamic nucleus (STN) electrodes. They compared β-activity in genetic subtypes and idiopathic PD (iPD). No differences were found in β-activity, and the authors conclude that, in the future, similar adaptive deep brain stimulation (DBS) algorithms would be
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Bioinformatics and Immunohistochemical Analyses Support Preserved Expression of Glial Cell Line–Derived Neurotrophic Factor Receptor RET in Parkinson's Mov. Disord. (IF 8.6) Pub Date : 2023-07-21 Conor Giles Doran, Fionnuala Wilson, Susan R. Goulding, Martina Mazzocchi, Louise M. Collins, Aideen M. Sullivan, Gerard W. O'Keeffe
Intracerebral administration of glial cell line–derived neurotrophic factor (GDNF) as a disease-modifying therapy has been trialed in Parkinson's disease (PD)1, 2; however, the potent effects seen in animal models have not been reproduced clinically. One reason proposed for this lack of efficacy in humans is downregulation of the GDNF receptor RET by α-synuclein (αSyn) in the PD substantia nigra (SN)
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Natural History and Phenotypic Spectrum of GAA-FGF14 Sporadic Late-Onset Cerebellar Ataxia (SCA27B) Mov. Disord. (IF 8.6) Pub Date : 2023-07-20 Thomas Wirth, Guillemette Clément, Clarisse Delvallée, Céline Bonnet, Thomas Bogdan, Andra Iosif, Audrey Schalk, Jean-Baptiste Chanson, David Pellerin, Bernard Brais, Virginie Roth, Marion Wandzel, Marie-Céline Fleury, Amélie Piton, Nadège Calmels, Izzie Jacques Namer, Stéphane Kremer, Christine Tranchant, Mathilde Renaud, Mathieu Anheim
Heterozygous GAA expansions in the FGF14 gene have been related to autosomal dominant cerebellar ataxia (SCA27B-MIM:620174). Whether they represent a common cause of sporadic late-onset cerebellar ataxia (SLOCA) remains to be established.
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X-Chromosome Association Study in Latin American Cohorts Identifies New Loci in Parkinson's Disease Mov. Disord. (IF 8.6) Pub Date : 2023-07-20 Thiago P. Leal, Shilpa C. Rao, Jennifer N. French-Kwawu, Mateus H. Gouveia, Victor Borda, Sara Bandres-Ciga, Miguel Inca-Martinez, Emily A. Mason, Andrea R.V.R. Horimoto, Douglas P. Loesch, Elif I. Sarihan, Mario R. Cornejo-Olivas, Luis E. Torres, Pilar E. Mazzetti-Soler, Carlos Cosentino, Elison H. Sarapura-Castro, Andrea Rivera-Valdivia, Angel C. Medina, Elena M. Dieguez, Víctor E. Raggio, Andrés
Sex differences in Parkinson's disease (PD) risk are well-known. However, the role of sex chromosomes in the development and progression of PD is still unclear.
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Effect of Oxygen Administration on Paroxysmal Motor Events in Alternating Hemiplegia of Childhood Mov. Disord. (IF 8.6) Pub Date : 2023-07-19 Maria T. Papadopoulou, Quentin Welniarz, Agathe Roubertie, Domitille Gras, Mathieu Milh, Eleni Panagiotakaki, Emmanuel Roze
Alternating hemiplegia of childhood (AHC) (OMIM No. 614820) is an early-onset neurodevelopmental encephalopathy frequently caused by mutations in the ATP1A3 gene (OMIM *182350) encoding for the α3 subunit of the Na+/K+-ATPase.1 It is typically characterized by intellectual disability, motor dysfunction, and various paroxysmal events.1 The occurrence of plegic or dystonic attacks is an important determinant
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Substantia Nigra Pars Reticulata Projections to the Pedunculopontine Nucleus Modulate Dyskinesia Mov. Disord. (IF 8.6) Pub Date : 2023-07-17 Yong Hu, Thong C. Ma, Stephanie L. Alberico, Yunmin Ding, Lingjing Jin, Un Jung Kang
Long-term use of levodopa for Parkinson's disease (PD) treatment is often hindered by development of motor complications, including levodopa-induced dyskinesia (LID). The substantia nigra pars reticulata (SNr) and globus pallidus internal segment (GPi) are the output nuclei of the basal ganglia. Dysregulation of SNr and GPi activity contributes to PD pathophysiology and LID.
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Mitochondria–Endoplasmic Reticulum Contact Sites Dynamics and Calcium Homeostasis Are Differentially Disrupted in PINK1-PD or PRKN-PD Neurons Mov. Disord. (IF 8.6) Pub Date : 2023-07-14 Dajana Grossmann, Nina Malburg, Hannes Glaß, Veronika Weeren, Verena Sondermann, Julia F. Pfeiffer, Janine Petters, Jan Lukas, Philip Seibler, Christine Klein, Anne Grünewald, Andreas Hermann
It is generally believed that the pathogenesis of PINK1/parkin-related Parkinson's disease (PD) is due to a disturbance in mitochondrial quality control. However, recent studies have found that PINK1 and Parkin play a significant role in mitochondrial calcium homeostasis and are involved in the regulation of mitochondria–endoplasmic reticulum contact sites (MERCSs).
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Sodium Oxybate in Alcohol-Responsive Essential Tremor of Voice: An Open-Label Phase II Study Mov. Disord. (IF 8.6) Pub Date : 2023-07-14 Lena C. O'Flynn, Steven J. Frucht, Kristina Simonyan
Essential tremor of voice (ETv) is characterized by involuntary oscillations of laryngeal and upper airway muscles, causing rhythmic alterations in pitch and loudness during both passive breathing and active laryngeal tasks, such as speaking and singing. Treatment of ETv is challenging and typically less effective compared with treatment of ET affecting extremities.
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Extracellular Vesicles for the Diagnosis of Parkinson's Disease: Systematic Review and Meta-Analysis Mov. Disord. (IF 8.6) Pub Date : 2023-07-14 Mary Xylaki, Avika Chopra, Sandrina Weber, Michael Bartl, Tiago F. Outeiro, Brit Mollenhauer
Parkinson's disease (PD) biomarkers are needed by both clinicians and researchers (for diagnosis, identifying study populations, and monitoring therapeutic response). Imaging, genetic, and biochemical biomarkers have been widely studied. In recent years, extracellular vesicles (EVs) have become a promising material for biomarker development. Proteins and molecular material from any organ, including