Neurology · 1995 · 28 citations · 2 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsNeurogeneticsGenetic DisordersNeurodegenerative Disease GeneticsNeurodegenerative DiseasesNeurodegenerative DisordersParkinson DiseaseParkinsonian DisordersAnticipation StudiesFamilial Inheritance PatternsFamilial Neurodegenerative DiseaseGenetic AnticipationNeurodegenerative GeneticsParkinson's Disease GeneticsRepeat Expansion AnalysisRepeat Expansion Mutations
In some kindreds, familial Parkinson's disease (PD) exhibits genetic anticipation. Thus, we postulated that familial PD in certain kindreds may be associated with a CAG repeat expansion. However, using the repeat expansion detection method, we found no significant increase in the frequency of CAG repeat expansion among 46 unrelated PD probands compared with controls. Nor did we find evidence for CAG repeat expansion between generations in 11 different PD families that exhibit anticipation in age at onset.
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Albert R. La Spada, Elizabeth Wilson, Dennis B. Lubahn et al. · Nature · 1991 · 2.8K citations
EuroQuan. Accountable for quality.
Alison Kitson · PubMed · 1993 · 13 citations