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. 2005 Jun 14;64(11):1955-7.
doi: 10.1212/01.WNL.0000164009.36740.4E.

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

Y Li  1 , H Tomiyama, K Sato, Y Hatano, H Yoshino, M Atsumi, M Kitaguchi, S Sasaki, S Kawaguchi, H Miyajima, T Toda, Y Mizuno, N Hattori
Affiliations

Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism

Y Li et al. Neurology. .

Abstract

The authors performed PINK1 mutation analysis of 51 families with autosomal recessive Parkinson disease (ARPD). They found two novel PINK1 mutations: one was a homozygous deletion (13516-18118del) and the other a homozygous missense mutation (C388R). Clinically, the patients with the deletion had dementia. Thus, early-onset PD with dementia may be considered PINK1-linked parkinsonism. Furthermore, patients with PINK1 mutations form 8.9% of parkin- and DJ-1-negative ARPD families.

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