Pathology of Familial Parkinson's Disease Koichi Wakabayashi 1 , Hitoshi Takahashi 2 1Department of Neuropathology,Institute of Brain Science,Hirosaki University Graduate School of Medicine 2Department of Pathology,Brain Research Institute,University of Niigata Keyword: familial Parkinson's disease , α-synuclein , Lewy body , presenilin-1 , pathology pp.851-864
Published Date 2007/8/1
DOI https://doi.org/10.11477/mf.1416100116
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 Studies of familial forms of Parkinson's disease (PD) have identified a growing number of genes that derive from the loci given the nomenclature PARK1-PARK13 (OMIM 168600). The α-synuclein gene has been implicated in rare autosomal dominant PD because of either mis-sense mutations (PARK1) or gene multiplications (PARK4). Moreover,UCHL1 (PARK5),LRRK2 (PARK8) and HTRA2 (PARK13) have been identified as causative genes for autosomal dominant PD,whereas parkin (PARK2),PINK1 (PARK6),DJ-1 (PARK7) and ATP13A2 (PARK9) have been identified as causative genes for autosomal recessive PD. Neuropathological examination of the kindreds of PARK1/4 showed Lewy body pathology ranging from classic PD to diffuse Lewy body disease. The pathological findings of PARK3 are similar to those of classic PD. In contrast,autopsies of patients with PARK2 showed nigral cell loss without Lewy bodies,although exceptions have been reported. Several kindreds of PARK8 included cases with Lewy body pathology,tau pathology,or with nigral cell loss in the absence of obvious protein deposition. Ubiquitin-positive inclusions that are negative for α-synuclein and tau are also seen in some cases. Moreover,widespread Lewy body pathology was also reported in several cases of familial Alzheimer's disease with presenilin-1 mutations.

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