Fig. 1: FTDP pedigree with C9ORF72 repeat expansions. | npj Parkinson's Disease

Fig. 1: FTDP pedigree with C9ORF72 repeat expansions.

From: Involvement of striatal motoric subregions in familial frontotemporal dementia with parkinsonism harboring the C9orf72 repeat expansions

Fig. 1: FTDP pedigree with C9ORF72 repeat expansions.

a Pedigree tree of the family with the repeat expansion mutation in C9orf72. There were three symptomatic patients in four generations of this pedigree. b Results of repeat primed PCR for C9orf72 expansion demonstrating the saw-tooth pattern, typical of the pathological expansion. Repeats are measurable up to 52 hexanucleotide repeats. Both the proband (III-4) and her brother (III-6) carry the C9orf72 repeat expansion. The proband’s sister (III-1) has a normal C9orf72 genotype (2/8) and is alive and healthy at the age of 80 years.

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