Chapter title |
Molecular genetic findings in LRRK2 American, Canadian and German families.
|
---|---|
Chapter number | 35 |
Book title |
Parkinson’s Disease and Related Disorders
|
Published in |
Journal of neural transmission Supplementum, December 2005
|
DOI | 10.1007/978-3-211-45295-0_35 |
Pubmed ID | |
Book ISBNs |
978-3-21-128927-3, 978-3-21-145295-0
|
Authors |
Gasser T, Gasser, T., T. Gasser |
Abstract |
A locus for a dominant form of PD has been mapped to the pericentromeric region of chromosome 12 in a Japanese family. We have confirmed linkage in two families of European ancestry and identified mutations in the gene for LRRK2 in these two and four additional families with dominantly inherited PD. All mutations are located in highly conserved domains of the gene. The LRRK2 protein belongs to the ROCO protein family, and includes a ras domaine (ras of complex proteins) and a protein kinase domain of the MAPKKK class and several other major functional domains. Within affected carriers of Families A and D, six post-mortem diagnoses reveal brainstem dopaminergic degeneration accompanied by strikingly diverse pathologies. These include abnormalities consistent with Lewy body Parkinson's disease, diffuse Lewy body disease, nigral degeneration without distinctive histopathology and progressive supranuclear palsy-like pathology. Hence, LRRK2 may be central to the pathogenesis of several major neurodegenerative disorders associated with parkinsonism. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | 7% |
Unknown | 13 | 93% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 4 | 29% |
Lecturer > Senior Lecturer | 1 | 7% |
Librarian | 1 | 7% |
Lecturer | 1 | 7% |
Other | 1 | 7% |
Other | 2 | 14% |
Unknown | 4 | 29% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 2 | 14% |
Medicine and Dentistry | 2 | 14% |
Neuroscience | 2 | 14% |
Computer Science | 1 | 7% |
Biochemistry, Genetics and Molecular Biology | 1 | 7% |
Other | 1 | 7% |
Unknown | 5 | 36% |