An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family
- 4 May 2005
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 57 (6), 918-921
- https://doi.org/10.1002/ana.20484
Abstract
We detected a missense mutation in the kinase domain of the LRRK2 gene in members with autosomal dominant Parkinson's disease of the Japanese family (the Sagamihara family) who served as the basis for the original defining of the PARK8 Parkinson's disease locus. The results of the Sagamihara family, in combination with the unique pathological features characterized by pure nigral degeneration without Lewy bodies, provided us with valuable information for elucidating the protein structure–pathogenesis relationship for the gene product of LRRK2. We did not detect this mutation or other known mutations of the LRRK2 gene in Japanese patients with sporadic Parkinson's disease. Ann Neurol 2005Keywords
This publication has 12 references indexed in Scilit:
- Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's DiseaseNeuron, 2004
- Mutations in LRRK2 Cause Autosomal-Dominant Parkinsonism with Pleomorphic PathologyNeuron, 2004
- Hereditary Early-Onset Parkinson's Disease Caused by Mutations in PINK1Science, 2004
- The PARK8 Locus in Autosomal Dominant Parkinsonism: Confirmation of Linkage and Further Delineation of the Disease-Containing IntervalAmerican Journal of Human Genetics, 2004
- Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset ParkinsonismScience, 2003
- A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2–q13.1Annals of Neurology, 2002
- The ubiquitin pathway in Parkinson's diseaseNature, 1998
- Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17Nature, 1998
- Mutations in the parkin gene cause autosomal recessive juvenile parkinsonismNature, 1998
- Mutation in the α-Synuclein Gene Identified in Families with Parkinson's DiseaseScience, 1997