S. Higuchi et al., MUTATION IN THE ALPHA-SYNUCLEIN GENE AND SPORADIC PARKINSONS-DISEASE,ALZHEIMERS-DISEASE, AND DEMENTIA WITH LEWY BODIES, Experimental neurology, 153(1), 1998, pp. 164-166
Recently, alpha-synuclein attracted attention when Polymeropoulos and
colleagues identified a missense mutation of this gene (Science 276:20
45-2047, 1997), which is responsible for a form of early-onset familia
l Parkinson's disease (PD). Immunohistochemically, alpha-synuclein is
localized in Lewy bodies, characteristic brain pathology of PD, dement
ia with Lewy bodies (DLB), and Alzheimer's disease (AD), suggesting th
at this protein may link these common neurological diseases. Explorati
on of the possibility that the same mutation of the alpha-synuclein ge
ne as that in familial PD (Ala53Thr) may also confer susceptibility to
sporadic PD, DLB, and AD revealed the mutation in none of the samples
of 329 cases and 230 controls examined, suggesting that this mutation
is not involved in these neurological diseases. (C) 1998 Academic Pre
ss.