期刊
NEUROLOGY
卷 54, 期 12, 页码 2325-2328出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.54.12.2325
关键词
ataxia; deafness; leukodystrophy
The authors report three related patients, two girls and a boy, presenting a distinctive clinical phenotype characterized by early-onset, slowly progressive ataxia. Subsequently these patients experienced sensorineural deafness, resulting in complete hearing loss by the age of 12 years, and exhibited leukodystrophy on brain MRI. There was no mental deterioration. An extensive neurometabolic assessment failed to detect any anomalies in the three patients. The patients originated from a large consanguineous family in southern Italy (Calabria), with a pedigree that was traced back five generations. The disease's pattern of transmission suggests an autosomal recessive trait.
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