Frontotemporal dementia (FTD): risk factors

Evidence-based neurology checklist on frontotemporal dementia (ftd): risk factors: C9orf72 gene mutations This is a major cause of familial FTD It is especially associated with behavioural variant FTD (bvFTD) It demonstrates genetic anticipation Motor neurone disease (MND) develops in 60% of cases…

C9orf72 gene mutations

  • This is a major cause of familial FTD
  • It is especially associated with behavioural variant FTD (bvFTD)
  • It demonstrates genetic anticipation
  • Motor neurone disease (MND) develops in 60% of cases
  • It is associated with frontal, temporal, parietal, and subcortical atrophy
  • Imaging shows focal atrophy of the left supramarginal gyrus
  • Imaging also shows gray atrophy in the thalamus, parieto-temporal cortex, and cerebellum
  • Pre-symptomatic carriers have abnormally low cortical gyrification
  • It is more likely to manifest with fasciculations, muscle atrophy and weakness
  • Also see Neurochecklist “Motor neurone disease (MND): C9orf72 variant”

VCP gene mutations

MAPT gene mutations

Other genetic mutations

Other risk factors

References

  1. Seelar H, Rohrer JD, Pijnenburg AL, Fox NC, van Swieten JC. Clinical, genetic and pathological heterogeneity of frontotemporal dementia: a review. JNNP 2011; 82:476-486.
  2. Gijselinck I, Van Mossevelde S, van der Zee J, et al; BELNEU Consortium. Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort. Neurology 2015; 85:2116-2125.
  3. Mahoney CJ, Beck J, Rohrer JD, et al. Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features. Brain 2012; 135:736-750.
  4. Van Mossevelde S, van der Zee J, Gijselinck I, et al; Belgian Neurology (BELNEU) Consortium. Clinical evidence of disease anticipation in families segregating a C9orf72 repeat expansion. JAMA Neurol 2017; 74:445-452.
  5. Bertrand A, Wen J, Rinaldi D, et al; Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group. Early cognitive, structural, and microstructural changes in presymptomatic c9orf72 carriers younger than 40 years. JAMA Neurol 2018; 75:236-245.
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