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Article

Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9.

Journal of Alzheimer's disease : JAD - 1 Jan 2013

Cerami Chiara, Marcone Alessandra, Galimberti Daniela, Zamboni Michele, Fenoglio Chiara, Serpente Maria, Scarpini Elio, Cappa Stefano F

Abstract excerpt

C9ORF72 repeat expansion is currently considered as a major genetic cause of amyotrophic lateral sclerosis (ALS) and, in particular, of combined frontotemporal dementia-motor neuron disorder (FTD-MND) pedigrees. Studies of large series of patients have indicated that various phenotypic presentations may be observed even in the same family. Here, we describe four patients carrying a C9ORF72 mutation with...

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Share to Amyotrophic Lateral Sclerosis
Share to C9orf72 Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 9

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Share to Genetic Carrier Screening

Share to Repetitive Sequences, Nucleic Acid

Source

Identifiers

PMID: 23435409
DOI: 10.3233/JAD-122302

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