Neurology Medical News about mutation carriers;heterozygous Parkin mutations;healthy subjects

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Frequency of heterozygous Parkin mutations in healthy subjects: Need for careful prospective follow-up examination of mutation carriers
Parkinsonism & Related Disorders, 06/26/09

Brüggemann N et al. – Elucidation of the role of heterozygosity is key for genetic testing and counseling of mutation carriers. A detailed clinical prospective and follow-up examination of mutation carriers is required for a better understanding of the role of heterozygous Parkin mutations.

Methods

Study of mutations in all 12 Parkin exons in 356 controls from 2 European populations (South Tyrol and Germany)

Results

None homozygous or compound heterozygous mutation in controls
Rare heterozygous alterations in 17 carriers
Of 17 carriers, 13 (13/356; 3.7%) protein structure alterations; 4 different gene dosage alterations, 4 missense mutations, and 2 frameshift mutation
South Tyrolean population: 2 recurrent mutations
No obvious difference in mutation frequency between the 2 populations
Re-examination of 1 presumably healthy mutation carrier at age 67 yrs: mild signs of parkinsonism, not fulfilling diagnostic criteria for definite Parkinson disease

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