reviewJournal of NeurologyMay 22, 2019HYBRID OA

An update on genetic frontotemporal dementia

CGCaroline GreavesJDJonathan D. Rohrer

NIHR Queen Square Dementia Biomedical Research Unit · University College London · +2 more institutions

PubMed
Indexed incrossrefpubmed

Abstract

Frontotemporal dementia (FTD) is a highly heritable group of neurodegenerative disorders, with around 30% of patients having a strong family history. The majority of that heritability is accounted for by autosomal dominant mutations in the chromosome 9 open reading frame 72 (C9orf72), progranulin (GRN), and microtubule-associated protein tau (MAPT) genes, with mutations more rarely seen in a number of other genes. This review will discuss the recent updates in the field of genetic FTD. Age at symptom onset in genetic FTD is variable with recently identified genetic modifiers including TMEM106B (in GRN carriers particularly) and a polymorphism at a locus containing two overlapping genes LOC101929163 and C6orf10…

Citation impact

508
total citations
FWCI
37.45
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100%
References
91
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Authors

2

Topics & keywords

Topics
Keywords
  • C9orf72
  • Frontotemporal dementia
  • Genetic testing
  • Amyotrophic lateral sclerosis
  • Medicine
  • Genetics
  • Psychology
  • Psychiatry
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