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G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy.
- Source :
-
Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2007 Mar 15; Vol. 22 (4), pp. 546-9. - Publication Year :
- 2007
-
Abstract
- Multiple system atrophy (MSA) is characterized clinically by Parkinsonism, cerebellar dysfunction, and autonomic impairment. Multiple mutations in the LRRK2 gene are associated with parkinsonian disorders, and the most common one, the G2019S mutation, has been found in approximately 1% of sporadic cases of Parkinsonism. In a well-characterized cohort of 136 subjects with probable MSA and 110 neurologically evaluated control subjects, none carried the G2019S mutation. We conclude that the G2019S mutation in the LRRK2 gene is unlikely to be associated with MSA.<br /> ((c) 2006 Movement Disorder Society.)
- Subjects :
- Cerebellum pathology
Female
Gene Expression genetics
Humans
Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
Male
Middle Aged
Multiple System Atrophy pathology
Parkinsonian Disorders epidemiology
Risk Factors
Multiple System Atrophy epidemiology
Parkinsonian Disorders genetics
Point Mutation genetics
Protein Serine-Threonine Kinases genetics
Subjects
Details
- Language :
- English
- ISSN :
- 0885-3185
- Volume :
- 22
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Movement disorders : official journal of the Movement Disorder Society
- Publication Type :
- Academic Journal
- Accession number :
- 17230458
- Full Text :
- https://doi.org/10.1002/mds.21343