Atypical tauopathy in a patient with LRRK2-G2019S mutation and tremor-dominant Parkinsonism
β Scribed by C. Ruffmann; G. Giaccone; M. Canesi; M. Bramerio; S. Goldwurm; M. Gambacorta; G. Rossi; F. Tagliavini; G. Pezzoli
- Book ID
- 115083670
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 870 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0305-1846
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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