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
The LRRK2 G2019S mutation in a series of Argentinean patients with Parkinson's disease: Clinical and demographic characteristics
✍ Scribed by Gatto, Emilia Mabel; Parisi, Virginia; Converso, Daniela Paola; Poderoso, Juan José; Carreras, María Cecilia; Martí-Massó, José Felix; Paisán-Ruiz, Coro
- Book ID
- 120351882
- Publisher
- Elsevier Science
- Year
- 2013
- Tongue
- English
- Weight
- 228 KB
- Volume
- 537
- Category
- Article
- ISSN
- 0304-3940
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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