Frontotemporal dementia (FTD): risk factors

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Frontotemporal dementia (FTD): risk factors. This is a major cause of familial FTD. Fully referenced neurology checklist.

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

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MAPT gene mutations

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Other genetic mutations

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Other risk factors

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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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