Article
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Neuron - 18 Nov 2004
Zimprich Alexander, Biskup Saskia, Leitner Petra, Lichtner Peter, Farrer Matthew, Lincoln Sarah, Kachergus Jennifer, Hulihan Mary, Uitti Ryan J, Calne Donald B, Stoessl A Jon, Pfeiffer Ronald F, Patenge Nadja, Carbajal Iria Carballo, Vieregge Peter, Asmus Friedrich, Müller-Myhsok Bertram, Dickson Dennis W, Meitinger Thomas, Strom Tim M, Wszolek Zbigniew K, Gasser Thomas
Abstract excerpt
We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8). By high-resolution recombination mapping and candidate gene sequencing in 46 families, we have found six disease-segregating mutations (five missense and one putative splice site mutation) in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase 2). It belongs to...
Topics
- Adult
- Amino Acid Sequence
- Blotting, Northern
- Brain
- Chromosome Mapping
- Female
- Genetic Linkage
- Humans
- Leucine-Rich Repeat Proteins