LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease
✍ Scribed by Jon Infante; Eloy Rodríguez; Onofre Combarros; Ignacio Mateo; Ana Fontalba; Julio Pascual; Agustín Oterino; José Miguel Polo; Carlos Leno; José Berciano
- Book ID
- 116768274
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 67 KB
- Volume
- 395
- Category
- Article
- ISSN
- 0304-3940
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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