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We describe three patients from two families with progressive spinocerebellar ataxia, peripheral neuropathy, raised alpha-fetoprotein (AFP) and hypercholesterolaemia. Two siblings had identical clinical features, with late childhood onset of symptoms and slow progression, requiring crutches to walk at ages 37 and 38 years. Another patient developed ataxia aged 13 years and became wheel-chair bound by 20 years of age. Although they all had raised serum AFP levels, their clinical, immunological, biochemical, cytogenetic and molecular genetic studies failed to support a diagnosis of Ataxia Telangiectasia. Extensive investigation including imaging, biochemical and genetic studies excluded other known ataxias. Their clinical features most closely resemble the phenotype of a single consanguineous Japanese family with four individuals affected by spinocerebellar ataxia, peripheral neuropathy, raised AFP and hypercholesterolaemia. Homozygosity mapping has identified a locus in this Japanese family at 9q34. Haplotype analysis of our cases demonstrated possible linkage to 9q34, suggesting these may be the first Caucasian families described with this disorder.

Original publication

DOI

10.1007/s00415-004-0427-y

Type

Journal article

Journal

J Neurol

Publication Date

07/2004

Volume

251

Pages

805 - 812

Keywords

Adult, Age of Onset, Atrophy, Cerebellum, Chromosome Disorders, Chromosome Mapping, Chromosomes, Human, Pair 9, DNA Mutational Analysis, Disease Progression, Female, Genes, Recessive, Haplotypes, Humans, Hypercholesterolemia, Male, Middle Aged, Ocular Motility Disorders, Pedigree, Peripheral Nervous System Diseases, Reflex, Stretch, Sensation Disorders, Spinocerebellar Ataxias, alpha-Fetoproteins