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Parkin gene variations in late‐onset Parkinson's disease: comparison between Norwegian and German cohorts
Author(s) -
Schlitter A. M.,
Kurz M.,
Larsen J. P.,
Woitalla D.,
Müller T.,
Epplen J. T.,
Dekomien G.
Publication year - 2006
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.2005.00532.x
Subject(s) - missense mutation , parkin , norwegian , cohort , genetics , parkinson's disease , age of onset , allele , compound heterozygosity , mutation , biology , medicine , disease , gene , philosophy , linguistics
Objectives – Mutations in the Parkin gene can cause autosomal recessive early‐onset Parkinson's disease (PD). Recently, Parkin mutations were also suggested to play a role in the commoner late‐onset forms of PD. Methods – We compared a German cohort of PD patients (95) with a Norwegian cohort of PD patients (96). Both cohorts have predominant late‐onset form of PD. Mutation and polymorphism frequencies were compared via single‐strand conformation polymorphism and sequence analyses. Results – Three heterozygous missense mutations (Arg256Cys, Arg402Cys and Thr240Met) were found in late‐onset PD patients in the German patient cohort (1.6%). A missense mutation (Arg402Cys) was also found in one of 149 healthy control subjects (0.3%). Only one heterozygous missense mutation (Arg256Cys) was identified in a Norwegian patient suffering from late‐onset PD (0.5%). The frequencies of four known single nucleotide polymorphisms significantly differ between the two distant European populations. Conclusion – The results support the hypothesis that heterozygous mutations in the Parkin gene may act as susceptibility alleles for late‐onset forms of PD in rare cases.