Article
C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.
Journal of Alzheimer's disease : JAD - 1 Jan 2014
Benussi Luisa, Rossi Giacomina, Glionna Michela, Tonoli Elisa, Piccoli Elena, Fostinelli Silvia, Paterlini Anna, Flocco Rosa, Albani Diego, Pantieri Roberta, Cereda Cristina, Forloni Gianluigi, Tagliavini Fabrizio, Binetti Giuliano, Ghidoni Roberta
Abstract excerpt
Expansion of a hexanucleotide repeat in the C9ORF72 gene has been identified as the most common pathogenic mutation in families with autosomal dominant frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis. Herein we investigated frequency and penetrance of the C9ORF72 hexanucleotide repeat pathological expansion in a large cohort of familial and sporadic FTLD and related disorders (FTLD and...
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