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Genetic Linkage Studies of Machado-Joseph Disease with Chromosome 14q STRPs in 16 Portuguese-Azorean Kindreds

1994; Elsevier BV; Volume: 21; Issue: 3 Linguagem: Inglês

10.1006/geno.1994.1327

1089-8646

Jorge Sequeiros, Isabel Silveira, Patrı́cia Maciel, Paula Coutinho, Alexandra Manaia, Cláudia Gaspar, Philippe Burlet, José L. Loureiro, Joao C. Guimaraes, Hajime Tanaka, Yoshihisa Takiyama, H. Sakamoto, Masatoyo Nishizawa, Yoshiko Nomura, Masaya Segawa, Shoji Tsuji, Judith Melki, Arnold Münnich,

Lysosomal Storage Disorders Research

Machado-Joseph disease (MJD) is a dominant multisystem degeneration found mostly among Azoreans and characterized by the adulthood onset of cerebellar, ocular, pyramidal, extrapyramidal, and/or peripheral signs. MJD has been recorded in many other populations, particularly in the United States and Japan. Using the microsatellite DNA polymorphisms (STRPs) D14S53, D14S55, D14S48, and D14S45, we found significantly positive lod scores in 16 Portuguese kindreds, suggesting that the MJD locus is linked to chromosome 14q in this population. Differences in age-at-onset and many untyped individuals seem to explain the lower lod scores. Using HOMOG, no evidence was found for heterogeneity with the five Japanese families in whom linkage was reported.