Spinocerebellar ataxia type 2 (SCA 2) in an infant with extreme CAG repeat expansion

D Babovic‐Vuksanovic, K Snow… - American journal of …, 1998 - Wiley Online Library
Autosomal dominant cerebellar ataxias are a heterogeneous group of neurodegenerative
disorders that generally present in adulthood. Spinocerebellar ataxia type 2 typically …

Spinocerebellar ataxia type 2 (SCA2): identification of early brain degeneration in one monozygous twin in the initial disease stage

F Hoche, L Balikó, W Den Dunnen, K Steinecker… - The cerebellum, 2011 - Springer
Abstract Spinocerebellar ataxia type 2 (SCA2) is a progressive autosomal dominantly
inherited cerebellar ataxia and is assigned to the CAG repeat or polyglutamine diseases …

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

I Silveira, C Miranda, L Guimaraes… - Archives of …, 2002 - jamanetwork.com
Background Ten neurodegenerative disorders characterized by spinocerebellar ataxia
(SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some …

Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy

T Matsuura, M Achari, M Khajavi… - Annals of Neurology …, 1999 - Wiley Online Library
We investigated a family with a new type of autosomal dominant cerebellar ataxia (ADCA) in
which pure cerebellar ataxia is often accompanied with epilepsy. No CAG repeat …

Common origin of pure and interrupted repeat expansions in spinocerebellar ataxia type 2 (SCA2)

EM Ramos, S Martins, I Alonso… - American Journal of …, 2010 - Wiley Online Library
The spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative
disease characterized by gait and limb ataxia. This disease is caused by the expansion of a …

Spinocerebellar ataxia 1 (SCA1) in the Japanese in Hokkaido may derive from a single common ancestry.

A Wakisaka, H Sasaki, A Takada… - Journal of medical …, 1995 - jmg.bmj.com
Spinocerebellar ataxia 1 (SCA1) is caused by expansion of an unstable CAG triplet repeat
located on the short arm of chromosome 6. Precise mapping has shown a positional …

CAG repeats in SCA6: anticipating new clues

HY Zoghbi - Neurology, 1997 - AAN Enterprises
Molecular genetics has had a major impact on neurology. The genes for many
neurodevelopmental and neurodegenerative disorders have been identified, and molecular …

Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats

G Imbert, F Saudou, G Yvert, D Devys, Y Trottier… - Nature …, 1996 - nature.com
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be
caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA …

High germinal instability of the (CTG) n at the SCA8 locus of both expanded and normal alleles

I Silveira, I Alonso, L Guimaraes, P Mendonça… - The American Journal of …, 2000 - cell.com
The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset,
neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4 …

Marked phenotypic heterogeneity associated with expansion of a CAG repeat sequence at the spinocerebellar ataxia 3/Machado-Joseph disease locus

G Cancel, N Abbas, G Stevanin, A Dürr… - American journal of …, 1995 - ncbi.nlm.nih.gov
The spinocerebellar ataxia 3 locus (SCA3) for type I autosomal dominant cerebellar ataxia
(ADCA type I), a clinically and genetically heterogeneous group of neuro-degenerative …