Monday February 19th 2018

A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: The Ala382Thr mutation and…

Multiple sclerosis (MS) is a chronic disease of the central nervous system characterized by inflammation and accompanied and followed by neurodegeneration. Missense mutations of the TAR DNA Binding Protein gene (TARDBP) located in the chromosome 1p36.22 region, and the hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9orf72) are pathogenic in other neurodegenerative diseases such as amyotrophic lateral sclerosis and frontotemporal lobar degeneration. Assuming that TARDBP Ala382Thr mutation and C9orf72 expansion may underlie MS, we evaluated their frequency in a large cohort of MS patients and controls from Sardinia, an island characterized by a very high frequency of MS and an unusual genetic background. (Source: Journal of the Neurological Sciences)

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A genetic association study of two genes linked to neurodegeneration in a Sardinian multiple sclerosis population: The Ala382Thr mutation and…

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