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
Genetic screening for LRRK2 gene G2019S mutation in Parkinson's disease patients from Southern Italy
✍ Scribed by Anna De Rosa; Chiara Criscuolo; Pietro Mancini; Marina De Martino; Ilaria Anna Giordano; Sabina Pappatà; Alessandro Filla; Giuseppe De Michele
- Book ID
- 116820546
- Publisher
- Elsevier Science
- Year
- 2009
- Tongue
- English
- Weight
- 259 KB
- Volume
- 15
- Category
- Article
- ISSN
- 1353-8020
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## Abstract Among mutations associated with autosomal dominant and sporadic Parkinson's disease (PD) the G2019S substitution in the leucine‐rich repeat kinase 2 (LRRK2) gene is the most frequently identified. To estimate its frequency in Russia, we analyzed 208 patients with PD from the Northwester
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