Machado-Joseph Disease or Not?
1991; American Medical Association; Volume: 48; Issue: 6 Linguagem: Inglês
10.1001/archneur.1991.00530180018010
ISSN1538-3687
Autores Tópico(s)Neurological disorders and treatments
ResumoTo the Editor. —Eto and coworkers 1 describe 12 patients with a hereditary ataxia they believe most closely resembles spinopontine atrophy as described by Boiler and Segarra 2 in a large Rhode Island kindred, the family W, of English extraction. I have had contact with this family. One patient from the family actually appears in the literature twice, as patient 2 in the report on spinopontine atrophy by Pogacar et al, 3 and again as a patient with olivopontocerebellar atrophy in the writings of Huang and Plaitakis. 4 The distinctions between spinopontine atrophy and olivopontocerebellar atrophy seem slight indeed on clinical or pathologic grounds. Eto et al 1 compare spinopontine atrophy to Machado-Joseph disease and note the many similarities. Machado-Joseph disease is distinctive primarily in its geographic source. Many hundreds of patients and nonaffected family members of Azorean lineage have been examined, and cultured cell lines established from those individuals
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