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 …

Spinocerebellar ataxias type 8, 12, and 17 and dentatorubro-pallidoluysian atrophy in Czech ataxic patients

Z Musova, Z Sedlacek, R Mazanec, J Klempir, J Roth… - The Cerebellum, 2013 - Springer
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders
currently associated with 27 genes. The most frequent types are caused by expansions in …

Analysis of SCA8 and SCA12 loci in 134 Italian ataxic patients negative for SCA1–3, 6 and 7 CAG expansions

A Brusco, C Cagnoli, A Franco, E Dragone… - Journal of …, 2002 - Springer
Spinocerebellar ataxias (SCA) are a heterogeneous group of neurodegenerative disorders,
six of which are caused by expansion of a polyglutamine-coding CAG repeats (SCA1-3, 6, 7 …

[HTML][HTML] Spinocerebellar ataxia tethering PCR: a rapid genetic test for the diagnosis of spinocerebellar ataxia types 1, 2, 3, 6, and 7 by PCR and capillary …

C Cagnoli, A Brussino, C Mancini, M Ferrone… - The Journal of Molecular …, 2018 - Elsevier
Spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7, associated with a (CAG) n repeat
expansion in coding sequences, are the most prevalent autosomal dominant ataxias …

Investigation of SCA10 in the Cypriot population: further exclusion of SCA dynamic repeat mutations

C Votsi, E Zamba-Papanicolaou, A Georghiou… - Journal of the …, 2012 - Elsevier
Autosomal dominant cerebellar ataxias (ADCAs) encompass a heterogeneous group of rare
diseases that affect the cerebellum and its connections. The most common forms have been …

Spinocerebellar ataxia 17: full phenotype in a 41 CAG/CAA repeats carrier

P Origone, F Gotta, M Lamp, L Trevisan, A Geroldi… - Cerebellum & …, 2018 - Springer
Abstract Background Spinocerebellar ataxia 17 (SCA17) is one of the most heterogeneous
forms of autosomal dominant cerebellar ataxias with a large clinical spectrum which can …

Clinical and molecular correlations in spinocerebellar ataxia type 6: a study of 24 Dutch families

RJ Sinke, EF Ippel, CM Diepstraten… - Archives of …, 2001 - jamanetwork.com
Background Autosomal dominant cerebellar ataxias (ADCAs), or spinocerebellar ataxias
(SCAs), are a heterogeneous group of neurodegenerative disorders. Mild CAG repeat …

SCA‐LSVD: a repeat‐oriented locus‐specific variation database for genotype to phenotype correlations in spinocerebellar ataxias

M Faruq, V Scaria, I Singh, S Tyagi… - Human …, 2009 - Wiley Online Library
Repeat expansion has been implicated in 10 out of 17 candidate genes identified for
autosomal dominant cerebellar ataxias (ADCAs)—commonly referred as spinocerebellar …

[HTML][HTML] Analysis of spinocerebellar ataxias due to expanded triplet repeats in Greek patients with cerebellar ataxia

G Koutsis, S Pemble, MG Sweeney, R Paudel… - Journal of the …, 2012 - Elsevier
The relative frequency of different autosomal dominant cerebellar ataxias, commonly
referred to as spinocerebellar ataxias (SCAs), varies considerably among populations of …

Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

H Jacobi, ST Du Montcel, S Romanzetti… - The Lancet …, 2020 - thelancet.com
Summary Background Spinocerebellar ataxias (SCAs) are autosomal dominant
neurodegenerative diseases. Our aim was to study the conversion to manifest ataxia among …