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Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients
Author(s) -
Zadikoff Cindy,
Rogaeva Ekaterina,
Djarmati Ana,
Sato Christine,
SalehiRad Shabnam,
St. GeorgeHyslop Peter,
Klein Christine,
Lang Anthony E.
Publication year - 2006
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.20854
Subject(s) - missense mutation , nonsense mutation , compound heterozygosity , nonsense , pink1 , genetics , loss of heterozygosity , disease , mutation , parkinson's disease , heterozygote advantage , pathogenesis , lrrk2 , medicine , biology , allele , gene , pathology , parkin
The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK1 mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care. © 2006 Movement Disorder Society