Frontotemporal dementia and amyotrophic lateral sclerosis

Definition:

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are genetically heterogeneous disorders. Mutations in the several genes and a repeat expansion in the C9orf72 gene have been reported to be associated with both diseases (FTDALS). Genes linked to both diseases may converge into a common pathogenetic pathway, explaining the overlap of clinical symptoms.

References:

[1]. Axel Freischmidt, et al. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nat Neurosci. 2015 May;18(5):631-6. [Content Brief]

[2]. Carol Dobson-Stone, et al. CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosis. Brain. 2020 Mar 1;143(3):783-799. [Content Brief]

[3]. Elisa Rubino, et al. SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Neurology. 2012 Oct 9;79(15):1556-62. [Content Brief]

[4]. Janel O Johnson, et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron. 2010 Dec 9;68(5):857-64. [Content Brief]

[5]. Kelly L Williams, et al. CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia. Nat Commun. 2016 Apr 15;7:11253. [Content Brief]

[6]. Kohji Mori, et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science. 2013 Mar 15;339(6125):1335-8. [Content Brief]

[7]. N Parkinson, et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology. 2006 Sep 26;67(6):1074-7. [Content Brief]

[8]. Sylvie Bannwarth, et al. A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement. Brain. 2014 Aug;137(Pt 8):2329-45. [Content Brief]

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