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The Genetics of Monogenic Frontotemporal Dementia

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Date 2017 Dec 8
PMID 29213965
Citations 24
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Abstract

Around 10-15% of patients diagnosed with frontotemporal dementia (FTD) have a positive family history for FTD with an autosomal dominant pattern of inheritance. Since the identification of mutations in (microtubule-associated protein tau gene) in 1998, over 10 other genes have been associated with FTD spectrum disorders, discussed in this review. Along with , mutations in (progranulin) and (chromosome 9 open reading frame 72) are the most commonly identified in FTD cohorts. The association of FTD and motor neuron disease (MND) can be caused by mutations in and other genes, such as (TAR DNA-binding protein), (fused in sarcoma), (ubiquilin 2). Multisystem proteinopathy is a complex phenotype that includes FTD, Paget disease of the bone, inclusion body myopathy and MND, and can be due to mutations in (valosing containing protein) and other recently identified genes.

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