Section 13
Chapter 12,084

Familial amyotrophic lateral sclerosis with frontotemporal dementia is linked to a locus on chromosome 9p13.2-21.3

Vance, C.; Al-Chalabi, A.; Ruddy, D.; Smith, B.N.; Hu, X.; Sreedharan, J.; Siddique, T.; Schelhaas, H.Jurgen.; Kusters, B.; Troost, D.; Baas, F.; de Jong, V.; Shaw, C.E.

Brain a Journal of Neurology 129(Pt 4): 868-876


ISSN/ISBN: 0006-8950
PMID: 16495328
DOI: 10.1093/brain/awl030
Accession: 012083972

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Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are both relentlessly progressive and ultimately fatal neurological disorders. ALS is familial in similar to 10% of cases and FTD in similar to 30%. Inheritance is usually autosomal dominant with variable penetrance. Phenotypic overlap between ALS and FTD can occur within the same kindred. Mutations in copper/zinc superoxide dismutase 1 (SOD1) are found in similar to 20% of familial and similar to 3% of sporadic ALS cases but are not associated with dementia. Mutations in microtubule associated protein tau (MAPT) are detected in similar to 30% of familial FTD kindreds. Dominant ALS with FTD has previously been linked to 9q21 and pure ALS to loci on 16q21, 18q21, 20p13.

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