Results 21 to 30 of about 114,557 (289)

Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3

Movement Disorders, 2021
Given that new therapeutic options for spinocerebellar ataxias are on the horizon, there is a need for markers that reflect disease‐related alterations, in particular, in the preataxic stage, in which clinical scales are lacking sensitivity.
J. Faber, T. Schaprian, Koyak Berkan, K. Reetz, M. França, T. J. R. de Rezende, Jiang Hong, W. Liao, B. P. van de Warrenburg, J. van Gaalen, A. Durr, F. Mochel, P. Giunti, H. Garcia-Moreno, L. Schoels, H. Hengel, M. Synofzik, B. Bender, G. Oz, J. Joers, J. J. de Vries, Jun-Suk Kang, D. Timmann-Braun, H. Jacobi, J. Infante, R. Joules, S. Romanzetti, J. Diedrichsen, M. Schmid, R. Wolz, T. Klockgether   +30 more
semanticscholar   +1 more source

Trehalose alleviates the phenotype of Machado–Joseph disease mouse models [PDF]

, 2020
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3, is the most common of the dominantly inherited ataxias worldwide and is characterized by mutant ataxin-3 aggregation and neuronal degeneration.
Cavadas, Cláudia, Cunha-Santos, Janete, Gaspar, Laetitia S., Greif, Hagar, Nobre, Rui Jorge, Nóbrega, Clévio, Paixão, Susana, Pereira de Almeida, Luís, Santana, Magda M., Silva, Teresa Pereira, Trevino-Garcia, Allyson   +10 more
core   +1 more source

Spinocerebellar ataxias: genotype-phenotype correlations in 104 Brazilian families

Clinics, 2012
OBJECTIVE: Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene.
Hélio A. G. Teive, Renato P. Munhoz, Walter O. Arruda, Iscia Lopes-Cendes, Salmo Raskin, Lineu C. Werneck, Tetsuo Ashizawa   +6 more
doaj   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function

Arquivos de Neuro-Psiquiatria, 2013
OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3 ...
Carolina Yuri P. Aizawa, Jose Luiz Pedroso, Pedro Braga-Neto, Marilia Rezende Callegari, Orlando Graziani Povoas Barsottini   +4 more
doaj   +1 more source

ATXN2-CAG42 sequesters PABPC1 into insolubility and induces FBXW8 in cerebellum of old ataxic knock-in mice [PDF]

, 2012
Spinocerebellar Ataxia Type 2 (SCA2) is caused by expansion of a polyglutamine encoding triplet repeat in the human ATXN2 gene beyond (CAG)31. This is thought to mediate toxic gain-of-function by protein aggregation and to affect RNA processing ...
Auburger, Georg, Azizov, Mekhman, Damrath, Ewa, Gispert, Suzana, Heck, Melanie V., Nowock, Joachim, Rüb, Udo, Seifried, Carola, Walter, Michael   +8 more
core   +3 more sources

A Difficult Case to Diagnose: Machado-Joseph Disease/Spinocerebellar Ataxia Type III

Journal of Aziz Fatimah Medical and Dental College, 2023
Machado-Joseph Disease, also known as Spinocerebellar Ataxia Type III, was initially described in patients of Azorean heritage as a neurodegenerative disease but is now known to occur globally.
Muhammad Sohail Ajmal Ghoauri , Nauman Ismat Butt, Dur-e-Sabeeh, Muhammad Bilal Rasheed, Muhammad Umair Javed, Fahmina Ashfaq   +5 more
doaj   +1 more source

Sensorimotor processing for balance in spinocerebellar ataxia type 6. [PDF]

, 2015
We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Bunn, LM, Day, BL, Giunti, P, Marsden, JF, Voyce, DC   +4 more
core   +1 more source

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Orphanet Journal of Rare Diseases, 2012
Background Congenital nonprogressive spinocerebellar ataxia is characterized by early gross motor delay, hypotonia, gait ataxia, mild dysarthria and dysmetria. The clinical presentation remains fairly stable and may be associated with cerebellar atrophy.
Huang Lijia, Chardon Jodi, Carter Melissa T, Friend Kathie L, Dudding Tracy E, Schwartzentruber Jeremy, Zou Ruobing, Schofield Peter W, Douglas Stuart, Bulman Dennis E, Boycott Kym M   +10 more
doaj   +1 more source

Changes in Purkinje cell firing and gene expression precede behavioral pathology in a mouse model of SCA2. [PDF]

, 2012
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited disorder, which is caused by a pathological expansion of a polyglutamine (polyQ) tract in the coding region of the ATXN2 gene.
Hansen, Stephen T, Meera, Pratap, Otis, Thomas S, Pulst, Stefan M   +3 more
core   +1 more source