Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes

G Aydin, G Dekomien, S Hoffjan, WM Gerding… - BMC neurology, 2018 - Springer
Background Spinocerebellar ataxia (SCA) subtypes are often caused by expansions in non-
coding regions of genes like SCA8, SCA10, SCA12 and SCA36. Other ataxias are known to …

A clinical and genetic study in a large cohort of patients with spinocerebellar ataxia type 6

H Takahashi, K Ishikawa, T Tsutsumi… - Journal of human …, 2004 - nature.com
In order to clarify the clinical and genetic features of SCA6, we retrospectively analyzed 140
patients. We observed an inverse correlation between the age of onset and the length of the …

Spinocerebellar ataxia type 1: clinical and neurophysiological characteristics in German kindreds

L Schöls, O Riess, S Schöls, S Zeck… - Acta neurologica …, 1995 - Wiley Online Library
Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder
caused by the expansion of an unstable (CAG) n repeat on chromosome 6p. We …

Varied electrophysiologic patterns in spinocerebellar ataxia type 2

BA Crum, KA Josephs - European journal of neurology, 2006 - Wiley Online Library
The autosomal dominant ataxias are a heterogenous group of disorders. Almost 30 different
genetic loci have been identified. Spinocerebellar ataxia type 2 (SCA2) is one of many …

Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study

H Jacobi, ST du Montcel, P Bauer, P Giunti… - The Lancet …, 2015 - thelancet.com
Background Spinocerebellar ataxias are dominantly inherited neurodegenerative diseases.
As potential treatments for these diseases are being developed, precise knowledge of their …

Content validity of the modified functional Scale for the Assessment and Rating of Ataxia (f-SARA) instrument in spinocerebellar ataxia

M Potashman, K Rudell, I Pavisic, N Suminski, R Doma… - The Cerebellum, 2024 - Springer
The functional Scale for the Assessment and Rating of Ataxia (f-SARA) assesses Gait,
Stance, Sitting, and Speech. It was developed as a potentially clinically meaningful measure …

Profile of extrapyramidal manifestations in 85 patients with spinocerebellar ataxia type 1, 2 and 3

K Jhunjhunwala, M Netravathi, M Purushottam… - Journal of Clinical …, 2014 - Elsevier
This study aimed to determine the prevalence and type of extrapyramidal signs (EPS) in
spinocerebellar ataxia (SCA) type 1, 2 and 3. Eighty-five patients with genetically confirmed …

Nonmotor symptoms in patients with spinocerebellar ataxia type 10

A Moro, RP Munhoz, M Moscovich, WO Arruda… - The Cerebellum, 2017 - Springer
Nonmotor symptoms (NMS) have been described in several neurodegenerative diseases
but have not been systematically evaluated in spinocerebellar ataxia type 10 (SCA10). The …

The S-factor, a new measure of disease severity in spinocerebellar ataxia: findings and implications

LP Selvadurai, SL Perlman, GR Wilmot, SH Subramony… - The Cerebellum, 2023 - Springer
Spinocerebellar ataxias (SCAs) are progressive neurodegenerative disorders, but there is
no metric that predicts disease severity over time. We hypothesized that by developing a …

[PDF][PDF] Cognitive changes in spinocerebellar ataxia type 2

M Vališ, J Masopust, J Bažant, Z Říhová… - Neuroendocrinology …, 2011 - academia.edu
OBJECTIVES: Cognitive disorders and dementia occur in 19 to 42% of patients with
spinocerebellar ataxia type 2 (SCA2). Neuropsychological tests can reveal executive …