Results 41 to 50 of about 81,579 (355)

Transcranial magnetic stimulation: the road to clinical therapy for dystonia

Dystonia, 2023
Despite many research studies, transcranial magnetic stimulation (TMS) is not yet an FDA-approved clinical therapy for dystonia patients. This review describes the four major challenges that have historically hindered the clinical translation of TMS. The
Patrick J. Mulcahey, Angel V. Peterchev, Angel V. Peterchev, Angel V. Peterchev, Angel V. Peterchev, Angel V. Peterchev, Nicole Calakos, Nicole Calakos, Nicole Calakos, Nicole Calakos, Noreen Bukhari-Parlakturk, Noreen Bukhari-Parlakturk   +11 more
doaj   +1 more source

Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study

Movement Disorders, 2019
Childhood‐onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood‐onset dystonia.
M. Carecchio, F. Invernizzi, P. Gonzalez-Latapi, C. Panteghini, G. Zorzi, L. Romito, V. Leuzzi, S. Galosi, Chiara Reale, F. Zibordi, A. Joseph, M. Topf, C. Piano, A. Bentivoglio, F. Girotti, P. Morana, Benedetto Morana, M. Kurian, B. Garavaglia, N. Mencacci, S. Lubbe, N. Nardocci   +21 more
semanticscholar   +1 more source

Quantitative Iron Measurements in the Basal Ganglia of NBIA Patients Using QSM: Insights From a Tertiary Center

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurodegeneration with brain iron accumulation (NBIA) comprises rare genetic disorders characterized by predominantly extrapyramidal symptoms and iron deposition in the basal ganglia. Conventional magnetic resonance imaging (MRI) detects qualitative changes but cannot accurately quantify iron accumulation. Quantitative susceptibility
Özge Uygun, Alpay Özcan, Fuat Kaan Aras, Evrim Bozdemir, Sibel Uğur İşeri, Koray Kırımtay, Arzu Karabay, Murat Gültekin, Nihan Hande Akçakaya, Orkhan Mammadov, Gülay Kır, Dilek İnce Günal, Neşe Tuncer, Fatma Betül Özdilek, Banu Özen Barut, Ercan Köse, Hülya Apaydın, Asuman Ali, Sultan Çağırıcı, Pınar Topaloğlu, Alp Dinçer, Zuhal Yapıcı   +21 more
wiley   +1 more source

X-linked dystonia-parkinsonism

Definitions, 2020
Later in life, many affected individuals also develop a pattern of involuntary, sustained muscle contractions known as dystonia. The dystonia associated with X-linked dystonia-parkinsonism typically starts in one area, most often the eyes, jaw, or neck ...
X-linked dystonia-parkinsonism
semanticscholar   +1 more source

Practice Recommendations for Genetic Testing of Ataxias

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Over the past decade, significant advances in genetic testing for ataxia have improved diagnostic accuracy, informed clinical trial eligibility, guided treatment decisions, and enabled cascade testing of at‐risk relatives. While guidance exists for other neurogenetic conditions, there are no standardized guidelines on genetic ...
Sharan R. Srinivasan, Amy D. Mook, Michelle Rochman, Jin Yun Helen Chen, Weiyi Mu, George R. Wilmot, Liana S. Rosenthal, Wendy R. Uhlmann   +7 more
wiley   +1 more source

Treating non-motor symptoms in dystonia: a systematic review

Dystonia
IntroductionDystonia is characterized by dysfunctional movements and postures and current treatments aim to reduce unwanted muscle activity. Dystonia also encompasses non-motor symptoms which are becoming increasingly recognized as important contributors
Dana Sugar, Sarah Pirio Richardson
doaj   +1 more source

Function and dysfunction of the dystonia network: an exploration of neural circuits that underlie the acquired and isolated dystonias

Dystonia, 2023
Dystonia is a highly prevalent movement disorder that can manifest at any time across the lifespan. An increasing number of investigations have tied this disorder to dysfunction of a broad “dystonia network” encompassing the cerebellum, thalamus, basal ...
Jason S. Gill, Jason S. Gill, Megan X. Nguyen, Megan X. Nguyen, Mariam Hull, Meike E. van der Heijden, Meike E. van der Heijden, Ken Nguyen, Ken Nguyen, Sruthi P. Thomas, Sruthi P. Thomas, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe, Roy V. Sillitoe   +14 more
doaj   +1 more source

Risk of spread in adult-onset isolated focal dystonia: a prospective international cohort study

Journal of Neurology Neurosurgery & Psychiatry, 2019
Objective Isolated focal dystonia can spread to muscles beyond the initially affected body region, but risk of spread has not been evaluated in a prospective manner.
B. Berman, C. Groth, Stefan H. Sillau, Sarah Pirio Richardson, S. Norris, Johanna Junker, N. Brüggemann, P. Agarwal, R. Barbano, A. Espay, Joaquin A. Vizcarra, C. Klein, T. Bäumer, Sebastian Loens, S. Reich, M. Vidailhet, C. Bonnet, E. Roze, H. Jinnah, J. Perlmutter   +19 more
semanticscholar   +1 more source

Chronic Pain in Parkinson’s Disease: Prevalence, Sex Differences, Regional Anatomy and Comorbidities

Annals of Clinical and Translational Neurology, EarlyView.
Chronic pain affected 66.2% of 10,631 individuals with Parkinson's disease, with higher prevalence and severity in females. Pain most often involved the buttocks, lower back, neck, and knees, and was linked to depression, sleep disorders, and osteoarthritis.
Natalia S. Ogonowski, Freddy Chafota, Fangyuan Cao, Amanda Wei Yin Lim, Victor Flores‐Ocampo, Santiago Díaz‐Torres, Zuriel Ceja, Luis M. García‐Marín, Scott F. Farrell, Kishore R. Kumar, Jane Alty, George D. Mellick, Trung Thành Ngô, Miguel E. Rentería   +13 more
wiley   +1 more source

Altered functional brain connectivity in Dyt1 knock-in mouse models

Dystonia
DYT1 dystonia is an early onset, generalized form of isolated dystonia characterized by sustained involuntary muscle co-contraction, leading to abnormal movements and postures.
R. Z. Adury, B. J. Wilkes, P. Girdhar, Y. Li, D. E. Vaillancourt, D. E. Vaillancourt, D. E. Vaillancourt   +6 more
doaj   +1 more source