Results 121 to 130 of about 42,506 (235)

Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms. [PDF]

, 2008
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6.
Baliko L, Bauer P, Boesch S, Charles P, Coudert M, Depondt C, di Donato S, du Montcel ST, Döhlinger S, Dürr A, Fancellu R, FILLA, ALESSANDRO, Giunti P, Globas C, Infante J, Kang JS, Klockgether T., Kremer B, Mariotti C, Melegh B, Pandolfo M, Rakowicz M, Ribai P, Rola R, Schmitz Hübsch T, Schöls L, Stephenson DA, Szymanski S, Timmann D, van de Warrenburg BP, Zdienicka E   +30 more
core  

Machado-Joseph Disease

Pediatric Neurology Briefs, 1996
The frequency, and clinical, molecular, and neuropathological features of spinocerebellar ataxia 3 (SCA3) and Machado-Joseph disease (MJD) in 125 autosomal dominant cerebellar ataxia (ADCA) families were analyzed at the Service de Neuropathologie ...
J Gordon Millichap
doaj   +1 more source

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene A história da ataxia espinocerebelar tipo 10 no Brasil: as viagens de um gene

Arquivos de Neuro-Psiquiatria, 2007
The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry ...
Hélio A.G. Teive, Walter O. Arruda, Salmo Raskin, Tetsuo Ashizawa, Lineu César Werneck   +4 more
doaj   +1 more source

Intensive Outpatient Treatment of Depression in a Spinocerebellar Ataxia Type 1 Patient

Case Reports in Psychiatry, 2019
Objective. Spinocerebellar ataxia type 1 (SCA1) is but one subtype of spinocerebellar ataxia (SCA), each of which can possibly be considered a separate neurological condition (N. Whaley, S. Fujioka, Z. K. Wszolek, 2011).
Eric Black
doaj   +1 more source

Cognitive Impairment Beyond Neurodegenerative Dementias: New Frontiers for Cognition in Neurological Disease

European Journal of Neurology, Volume 33, Issue 5, May 2026.
Paulo Caramelli, Isabel Pavão Martins
wiley   +1 more source

A targeted gene panel that covers coding, non-coding and short tandem repeat regions improves the diagnosis of patients with neurodegenerative diseases [PDF]

, 2019
Genetic testing for neurodegenerative diseases (NDs) is highly challenging because of genetic heterogeneity and overlapping manifestations. Targeted-gene panels (TGPs), coupled with next-generation sequencing (NGS), can facilitate the profiling of a ...
Au, Wing Chi, Chan, Anne Yin-Yan, Chan, Ho Yin Edwin, Chan, Larry W L, Chan, Ting-Fung, Cheng, Timothy H T, Li, Jing-Woei, Lin, Xiao, Mok, Vincent C T, Yim, Aldrin Kay-Yuen, Yu, Allen Chi-Shing, Yuen, Liz Y P   +11 more
core   +1 more source

The novel ITPR1 p.Phe2566Ser variant impairs IP3R1‐mediated Ca2+ release and is associated with ataxia and miosis

Journal of Internal Medicine, Volume 299, Issue 5, Page 643-648, May 2026.
Josephine Wincent, Songbai Zhang, Andrew Nolan, Shigeaki Kanatani, Frida Nordin, Malin Kvarnung, Per Uhlén, Martin Paucar, Ilse Eidhof   +8 more
wiley   +1 more source

Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6. [PDF]

, 2008
: Onset of genetically determined neurodegenerative diseases is difficult to specify because of their insidious and slowly progressive nature. This is especially true for spinocerebellar ataxia (SCA) because of varying affection of many parts of the ...
Baliko L, Bauer P, Boesch S, Depondt C, Di Donato S, du Montcel ST, Durr A, FILLA, ALESSANDRO, Globas C, Klockgether T, Mariotti C, Melegh B, Rakowicz M, Ribai P, Rola R, Schmitz Hubsch T, Schols L., Szymanski S, Timmann D, Van de Warrenburg BP   +19 more
core  

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n allele at the SCA17 locus [PDF]

, 2002
BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions.
Alonso, I, Barbot, C, Barros, J, Coelho, J, Ferreirinha, F, Ferro, A, Guimarães, L, Januário, C, Mendonça, P, Miranda, C, Moreira, MC, Pinto-Basto, J, Poirier, J, Silveira, I, Tuna, A, Vale, J   +15 more
core  

Spinocerebellar ataxias Ataxias espinocerebelares

Arquivos de Neuro-Psiquiatria, 2009
Spinocerebellar ataxias (SCAs) constitute a heterogeneous group of neurodegenerative diseases characterized by progressive cerebellar ataxia in association with some or all of the following conditions: ophthalmoplegia, pyramidal signs, movement disorders, pigmentary retinopathy, peripheral neuropathy, cognitive dysfunction and dementia.
openaire   +1 more source