Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental RetardationTachi N.a · Kozuka N.a · Ohya K.b · Chiba S.b · Sasaki K.c
aSchool of Health Sciences and bDepartment of Pediatrics, Sapporo Medical University, School of Medicine, and cHokkaido Prefectural Rehabilitation Center for Physically Handicapped Children, Sapporo, Japan Eur Neurol 2000;43:82–87 (DOI:10.1159/000008140)
We present here 5 patients with hereditary cerebellar ataxia with peripheral neuropathy and mental retardation as determined by clinical, pathological, and molecular studies. The most characteristic features of this disorder, in contrast to Friedreich’s ataxia, were early onset of ataxic gait, mental retardation, and a marked atrophy of the cerebellum. Sural nerve biopsy showed a reduction of myelinated fibers. The expansion of a GAA triplet repeat within the first intron of the frataxin gene, which causes Friedreich’s ataxia, was not identified in any of the patients. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation represents a specific clinical entity that so far has only been described in Japan.
Copyright © 2000 S. Karger AG, Basel
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