Identification of a Japanese family with LRRK2 p.R1441G-related Parkinson's disease
β Scribed by Hatano, Taku; Funayama, Manabu; Kubo, Shin-ichiro; Mata, Ignacio F.; Oji, Yutaka; Mori, Akio; Zabetian, Cyrus P.; Waldherr, Sarah M.; Yoshino, Hiroyo; Oyama, Genko; Shimo, Yasushi; Fujimoto, Ken-ichi; Oshima, Hirokazu; Kunii, Yasuto; Yabe, Hirooki; Mizuno, Yoshikuni; Hattori, Nobutaka
- Book ID
- 124121421
- Publisher
- Elsevier Science
- Year
- 2014
- Tongue
- English
- Weight
- 423 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0197-4580
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## Abstract We report the neuropathological findings in a patient with Parkinson's disease (PD) associated with Basque R1441Gβ__LRRK2__/dardarin mutation. The patient was a man with disease onset at 68 years of age, with unilateral rest tremor; the Parkinsonism was well controlled with medication f
## Abstract The __LRRK2 R1441G__ mutation was first identified in Basque families and it is responsible for 46% of familial Parkinson's disease (PD) and for 2.5% of sporadic PD in the PD population of Basque ascent. The aim of this study was to determine __LRRK2 R1441G__ penetrance in PD in the Bas