We describe here the cloning of a novel gene that contains missense mutations segregating with PARK8-linked PD in five families from England and Spain.
We describe here the cloning of a novel gene that contains missense mutations segregating with PARK8-linked PD in five families from England and Spain.
These findings confirm the association of LRRK2 with neurodegeneration, and identify a common mutation associated with dominantly inherited Parkinson's disease.
Mutations in leucine-rich repeat kinase 2 (LRRK2) cause autosomal-dominant Parkinsonism with clinical features of PD and with pleomorphic pathology including deposits of aggregated protein.
Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.
To study recurrent LRRK2 mutations in a large sample of patients from Italy, including early (<50 years) and late onset familial and sporadic Parkinson's disease.
We screened for the most common LRRK 2 mutation in a series of patients with Parkinson's Disease, Alzheimer's disease, Progressive Supranuclear Palsy, Multiple System Atrophy and frontotemporal dementia, as well as in neurologically normal controls.
In addition, it will discuss the recent identification of LRRK2 mutation as a cause of PD and the potential of this finding to provide further insight into disease.