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Arch Ophthalmol. 2002;120:655-659.

	Since this article does not have an abstract, we have provided the first 150 words of the full text and any section headings.

INTRODUCTION

Spinocerebellar ataxia (SCA) 7, also known as autosomal dominant cerebellar ataxia (ADCA) type II or olivopontocerebellar atrophy with retinal degeneration, is one of at least 14 genetically distinct forms of hereditary SCA. All of these forms are characterized by variable degeneration of the cerebellar cortex, the basal ganglia, the brainstem, the spinal cord, and the peripheral nerves. Prior to the identification of the causative genes, ADCAs were divided into 3 subtypes.¹ In ADCA type I, cerebellar ataxia is associated with ophthalmoplegia, optic atrophy, extrapyramidal signs, and dementia. Patients with ADCA type II develop retinal degeneration and cerebellar ataxia. Ophthalmoplegia, extrapyramidal signs, and dementia are variably present. Autosomal dominant cerebellar ataxia type III is described as a "pure" cerebellar syndrome. All 3 ADCA types are genetically heterogeneous. Almost all of ADCA type II cases are due to mutations in the SCA7 locus; thus, SCA7 is unique in that it is the . . . [Full Text of this Article]

Report of a Case

Comment

Corresponding author and reprints: Margaret E. McLaughlin, MD, Children's Hospital, Department of Pathology, 300 Longwood Ave, Boston, MA 02115 (e-mail: memclaughlin@partners.org).