Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental RetardationTachi N. · Kozuka N. · Ohya K. · Chiba S. · Sasaki K.
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
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.
School of Health Sciences, Sapporo Medical University
S1 W16 Chuo-ku
060 Sapporo (Japan)
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Received: Received: October 26, 1998
Accepted: August 5, 1999
Number of Print Pages : 6
Number of Figures : 3, Number of Tables : 1, Number of References : 20
Founded 1897 as ‘Monatsschrift für Psychiatrie und Neurologie’
Vol. 43, No. 2, Year 2000 (Cover Date: Released February 2000)
Journal Editor: J. Bogousslavsky, Lausanne
ISSN: 0014–3022 (print), 1421–9913 (Online)
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