Movement Disorders · 2006 · 33 citations · 20 references
GeneticsPathologyMolecular GeneticsDisease Gene IdentificationClinical GeneticsMendelian DisorderNeurologyMolecular DiagnosticsDisease PathogenesisMonogenic DisordersDisease PatientsNeurodegenerationMovement DisordersNeurodegenerative DiseasesGenetic DisorderParkinson DiseaseDegenerative DiseasePink1 MutationsGenetic ScreeningMedicine
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.
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Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Mihael H. Polymeropoulos, Christian Lavedan, Elisabeth Leroy et al. · Science · 1997 · 8.2K citations