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Genotype–phenotype correlation: Familial Parkinson disease
Author(s) -
Mori Hideo,
Hattori Nobutaka,
Mizuno Yoshikuni
Publication year - 2003
Publication title -
neuropathology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.701
H-Index - 61
eISSN - 1440-1789
pISSN - 0919-6544
DOI - 10.1046/j.1440-1789.2003.00476.x
Subject(s) - mendelian inheritance , phenotype , genetics , disease , genotype phenotype distinction , biology , genotype , gene , genetic linkage , pedigree chart , parkinson's disease , medicine , pathology
Kindreds with Mendelian inheritance of Parkinson disease (PD) have been known since a long time ago. Nine loci have been mapped in familial PD by linkage study and four causative genes have been cloned. This paper discusses Park 1 and Park 2, the identification of which has brought about many advances in the studies on pathomechanism of PD. Investigations of these genes in familial PD have expanded their clinical and pathological phenotypes. However, to clarify the effect of mutations on these phenotypes, additional post‐mortem neuropathological studies are required.