Results 41 to 50 of about 28,732 (186)

Coenzyme Q10 and spinocerebellar ataxias [PDF]

Movement Disorders, 2014
ABSTRACTThe aim of this study was to investigate the association between drug exposure and disease severity in SCA types 1, 2, 3 and 6. The Clinical Research Consortium for Spinocerebellar Ataxias (CRC‐SCA) enrolled 319 participants with SCA1, 2, 3, and 6 from 12 medical centers in the United States and repeatedly measured clinical severity by the ...
Lo, Raymond Y., Figueroa, Karla P., Pulst, Stefan M., Lin, Chi‐ying, Perlman, Susan, Wilmot, George, Gomez, Christopher, Schmahmann, Jeremy, Paulson, Henry, Shakkottai, Vikram G., Ying, Sarah, Zesiewicz, Theresa, Bushara, Khalaf, Geschwind, Michael, Xia, Guangbin, Subramony, S.H., Ashizawa, Tetsuo, Kuo, Sheng‐han   +17 more
openaire   +4 more sources

Gait Adaptability Training Improves Gait in Spinocerebellar Ataxia Patients

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Spinocerebellar ataxia (SCA) is a rare, genetic neurodegenerative movement disorder primarily affecting the cerebellum. So far, there is no available cure for SCA. However, evidence suggests that neurorehabilitation can alleviate symptoms.
Colette J.M. Reniers, Martin E. Johansson, Karen Huisman‐Venrooij, Ivan Toni, Vivian Weerdesteyn, Bart P.C. van de Warrenburg   +5 more
wiley   +1 more source

Cerebellar lncRNA Expression Profile Analysis of SCA3/MJD Mice

International Journal of Genomics, 2018
Spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD) is the most common autosomal dominant spinocerebellar ataxia in China with highly clinical heterogeneity, such as progressive cerebellar ataxia, dysarthria, pyramidal signs, external ...
Zhe Long, Tianjiao Li, Zhao Chen, Yun Peng, Chunrong Wang, Xiaocan Hou, Hongyu Yuan, Puzhi Wang, Yue Xie, Lang He, Xin Zhou, Huirong Peng, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang   +15 more
doaj   +1 more source

Increased sexual arousal in patients with movement disorders

Arquivos de Neuro-Psiquiatria, 2016
Increased of sexual arousal (ISA) has been described in different neurological diseases. The purpose of this study was present a case series of ISA in patients with movement disorders.
Hélio A. G. Teive, Adriana Moro, Mariana Moscovich, Renato P. Munhoz   +3 more
doaj   +1 more source

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan, Laura Tochen, Jacky Ganguly, Sayoni Roy Chowdhury, Haya S AlFaris, Vivek Pai, Andrea LeBlanc‐Millar, Sara Breitbart, Hrishikesh Kumar, Manohar Shroff, Arun Reginald, Grace Yoon, Alfonso Fasano, George M Ibrahim, Carolina Gorodetsky   +14 more
wiley   +1 more source

Spinocerebellar ataxia-type 34: A case report and brief review of the literature

Radiology Case Reports, 2023
Neurodegenerative disorders are classified as a group of diseases with progressive loss of neurons secondary to aggregation of misfolded proteins.
Vivek Batheja, MD, Morgan Fish, DO, Aneri B. Balar, MD, Siddhi Hedge, MBBS, Jeffery P. Hogg, MD, FACR, Dhairya A. Lakhani, MD, Musharaf Khan, DO   +6 more
doaj   +1 more source

Itajaí, Santa Catarina – Azorean ancestry and spinocerebellar ataxia type 3

Arquivos de Neuro-Psiquiatria
The authors present a historical review of spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD), the most common form of spinocerebellar ataxia in Brazil, and consider the high frequency of cases in families from Itajaí, a city on the coast of
Hélio A. G. Teive, Adriana Moro, Walter O. Arruda, Salmo Raskin, Gladys M. G. Teive, Norberto Dallabrida, Renato P. Munhoz   +6 more
doaj   +1 more source

Clinical and genetic profile in index patients with spinocerebellar ataxia type 3 in Indonesia: case report

Heliyon, 2021
Spinocerebellar ataxia (SCA) is an autosomal dominant hereditary disease with progressive course, and no causal therapy. Diagnostics are still challenging, due to facility and protocols, and so as in Indonesia. As a national referral center, Dr.
Siti Aminah, Fathul Huda, Uni Gamayani, Iin Pusparini, Mochammad Faisal Afif Mochyadin, Yunia Sribudiani, Norlinah Mohamed Ibrahim, Tri Hanggono Achmad   +7 more
doaj   +1 more source

A Severity‐Agnostic Atrophy Pattern in Spinocerebellar Ataxia Type 3: Volumetrics from ENIGMA‐Ataxia

Movement Disorders, EarlyView.
Background Spinocerebellar ataxia type 3 (SCA3) is a rare, inherited neurodegenerative disease characterized by progressive loss of motor coordination. Objectives We undertook a multisite magnetic resonance imaging study to profile the spatial spread of atrophy across the brain, determine whether atrophy preferentially maps onto specific functional ...
Jason W. Robertson, Isaac Adanyeguh, David J. Arpin, Tetsuo Ashizawa, Benjamin Bender, Fernando Cendes, Xi Chen, Giulia Coarelli, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Jennifer Faber, for the ESMI MR Study Group, Juan Fernandez‐Ruiz, Mónica Ferreira, Marcondes C. França, Sophia L. Göricke, Shuo Han, Thomas Klockgether, Chen Liu, Jun Luo, Alberto R.M. Martinez, Sergio E. Ono, Chiadi U. Onyike, Gülin Öz, for the EUROSCA MR Study Group, Henry Paulson, Jerry L. Prince, Kathrin Reetz, Thiago J.R. Rezende, Matthis Synofzik, Hélio A. Ghizoni Teive, Sophia I. Thomopoulos, Paul M. Thompson, Dagmar Timmann, David Vaillancourt, Bart van de Warrenburg, Judith van Gaalen, Xingang Wang, Philipp Wegner, Sarah H. Ying, Ian H. Harding, Carlos R. Hernandez‐Castillo   +43 more
wiley   +1 more source

Approaches to the treatment of autosomal-dominant spinocerebellar ataxias

Якутский медицинский журнал
The article is devoted to the prospects for the treatment of neurodegenerative diseases with dynamic mutations based on published studies of the search for approaches to the treatment of spinocerebellar ataxia.
S. K. Kononova
doaj   +1 more source