Clinicogenetic study of PINK1 mutations in autosomal recessive early-onset parkinsonism
Y Li, H Tomiyama, K Sato, Y Hatano, H Yoshino… - Neurology, 2005 - AAN Enterprises
Y Li, H Tomiyama, K Sato, Y Hatano, H Yoshino, M Atsumi, M Kitaguchi, S Sasaki…
Neurology, 2005•AAN EnterprisesThe 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.
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.
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.
American Academy of Neurology