P3.028 Analysis of the LRRK2 p.G2019S mutation in Colombian Parkinson's disease patients
✍ Scribed by A.F. Duque Rodríguez; J.J. Yunis Londoño; H. Arboleda Granados; W. Fernández Escobar; G. Arboleda Bustos
- Book ID
- 117753795
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 58 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1353-8020
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genes and who were found to be negative. 1 In this group of 122 patients, we identified 5 patients with an FMR1 premutation and in 4 of them a definite diagnosis of fragile Xassociated tremor/ataxia syndrome (FXTAS) could be made, based on the proposed diagnostic criteria for FXTAS. We proposed base
To evaluate the frequency of the LRRK2 G2019S mutation in Italy, we tested 1,072 probands with Parkinson's disease (PD; 822 sporadic and 250 familial): 20 patients (1.9%) carried the G2019S mutation, 11 patients (1.3%) were sporadic, and 9 (4.3%) had a positive family history. Considering only proba
## Abstract Mutations in the Leucine‐Rich Repeat Kinase 2 gene (__LRRK2__) are mainly responsible for idiopathic Parkinson's disease (PD) with either a dominant pattern of transmission or a sporadic occurrence due to the reduced penetrance. A majority of __LRRK2__ kindreds demonstrate an extremely