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The LRRK2 G2019S mutation status does not affect the outcome of subthalamic stimulation in patients with Parkinson's disease

✍ Scribed by Greenbaum, Lior; Israeli-Korn, Simon D.; Cohen, Oren S.; Elincx-Benizri, Sandra; Yahalom, Gilad; Kozlova, Evgenia; Strauss, Hanna; Molshatzki, Noa; Inzelberg, Rivka; Spiegelmann, Roberto; Israel, Zvi; Hassin-Baer, Sharon


Book ID
121324112
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
204 KB
Volume
19
Category
Article
ISSN
1353-8020

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## 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

Frequency and phenotypes of LRRK2 G2019S
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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