Spinocerebellar ataxia type 7: Report of an Indian family.

Spinocerebellar ataxia type 7 (SCA7) is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is...
2MB Sizes 1 Downloads 0 Views

Recommend Documents

Spinocerebellar ataxia type 7: a neurodegenerative disorder with peripheral neuropathy.
Autosomal dominant spinocerebellar ataxias (SCA) are a group of inherited neurodegenerative disorders that typically show peripheral neuropathy. SCA7 is one of the rarest forms of SCA (

Circumscribed outer foveolar defects in spinocerebellar ataxia type 7.
To report circumscribed outer foveolar defects in a 40-year-old man with a history of spinocerebellar ataxia type 7.

Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7.
Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder that is accompanied by loss of motor control and macular degeneration. Previous studies have shown cerebellar and pons atrophy as well as functional connectivity changes

Spinocerebellar Ataxia 7: A Report of Unaffected Siblings Who Married into Different SCA 7 Families.
Two families with spinocerebellar ataxia type 7 are presented. Although there are affected cousins, it is not the sibling parents that transmitted the mutation. It is assumed that the affected families share a common ancestor.

Pulling complexes out of complex diseases: Spinocerebellar Ataxia 7.
Spinocerebellar ataxia 7 (SCA7) is an incurable disease caused by expansion of CAG trinucleotide sequences within the Ataxin-7 gene. This elongated CAG tract results in an Ataxin-7 protein bearing an expanded polyglutamine (PolyQ) repeat. SCA7 diseas

Spinocerebellar ataxia type 10 in Chinese Han.
Spinocerebellar ataxia type 10 (SCA10; OMIM #603516) is an autosomal dominant cerebellar ataxia with variably associated extracerebellar signs.(1,2) SCA10 is caused by an expanded noncoding pentanucleotide repeat in ATXN10, which normally ranges from

Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families.
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disease characterized by progressive cerebellar ataxia and macular degeneration causing progressive blindness. It accounts for 1 to 11.6 % of spinocerebellar ataxias (SCAs) cases worldwide

Clinical and molecular effect on offspring of a marriage of consanguineous spinocerebellar ataxia type 7 mutation carriers: a family case report.
Spinocerebellar ataxia type 7 (SCA7) is a genetic disorder characterized by degeneration of the cerebellum, brainstem, and retina that is caused by abnormal expansion of a CAG repeat located in the ATXN7 gene encoding sequence on chromosome 3p21.1. A