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Spinocerebellar ataxia type 7 (SCA7)

Melanie Walker, Donald Farrell University of Washington Medical Center, Seattle, WA, USA

Correspondence to:
Correspondence to:
Dr M Walker, Department of Neurology, University of Washington School of Medicine, Harborview, Medical Center, Box 359775, 325 9th Avenue, Seattle, WA 98104, USA;
walkerm@u.washington.edu

The first 150 words of the full text of this article appear below.

In 1937, French physicians described three generations of a family with a particularly aggressive degenerative cerebellar and ophthalmological disease.¹ Since then many similar patients have been described with progressive cerebellar ataxia and retinal dystrophy resulting in progressive central visual loss and eventually blindness. Before the availability of genetic classification of the spinocerebellar ataxias, this condition was generally known as olivopontocerebellar ataxia (OPCA) type II or III.² In 1995, the heritable defect was mapped to chromosome 3p.³ The prevalance of the disease is less than one per 100 000 population, with spinocerebellar ataxia type 7 (SCA7) representing less than 2% of all SCAs.⁴ Worldwide, SCA7 is among the rarest forms of autosomal dominant cerebellar ataxia that is genetically verifiable, except in Sweden and Finland where it is one of the more common ataxias documented.⁵

CASE REPORT

An 11 year old girl presented to our clinic for evaluation of developmental delay and neurological symptoms. . . . [Full text of this article]