Whole-brain connectivity analysis and classification of spinocerebellar ataxia type 7 by functional MRI

Ataxin-7 SUMOylation and its functional consequences in the Spinocerebellar Ataxia Type 7 (SCA7) pathophysiology

Spinocerebellar ataxia type 6.

We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...

Spinocerebellar ataxia type 7 without retinal degeneration: a case report.

A 60-yr-old man developed progressive gait disturbance and limb ataxia at the age of 52. Family history was absent for neurological disorders. Examinations showed pure cerebellar syndrome. There was no retinal degeneration for 7 yr. A brain MRI done at the age of 56 showed atrophy of the cerebellar hemispheres and vermis. Genetic test confirmed the spinocerebellar ataxia type 7 with CAG repeat ...

Spinocerebellar Ataxia Type 7 Sans Retinal Degeneration: A Phenotypic Variability

Autosomal dominant cerebellar ataxia (ADCA) was classified into Type I, Type II, and Type III, based on the clinical phenotypes by Harding. ADCA Type I presents with both cerebellar and noncerebellar signs and includes SCA1–SCA4, SCA8, SCA10, SCA12-SCA23, SCA25, SCA27, SCA28, and SCA32–SCA36. ADCA Type II consists of syndromes in association with pigmentary retinopathies and includes SCA7. ADCA...

Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias.

The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very e...