Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 07-05-2024
Symbol ALSFTD1
Location 9p21.2
Name amyotrophic lateral sclerosis with dementia 1
Other name(s) amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD)
Corresponding gene C9orf72
Other symbol(s) FTDP
Main clinical features
  • frontotemporal atrophy and also frontotemporal gliosis, vacuolar changes in the corresponding cortex, rare Pick bodies, and a relative paucity of amyloid plaques and neurofibrillary tangles
  • extra-pyramidal-like features (like parkinsonism), dementia characterized by socially inappropriate, impulsive behavior associated with amyotrophic
  • asymptomatic C9orf72 carriers show cortical and subcortical differences compared with noncarriers from the same family, possibly effects of the C9orf72 repeat expansion on the brain (PMID: 26497991))
    • lateral sclerosis
  • at the RMI , frontotemporal gliosis, vacuolar changes in the corresponding cortex, rare Pick bodies, and a relative paucity of amyloid plaques and neurofibrillary tangles
    • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease
    Remark(s)
  • heterozygous hexanucleotide repeat expansion (GGGGCC) in a noncoding region of the C9ORF72 gene (unaffected individuals have 2 to 19 repeats, whereas affected individuals have 250 to over 2,000 repeats)
  • intermediate ATXN2 repeat lengths may render C9ORF72 expansion carriers more susceptible to the development of motor neuron disease (MND) (PMID: 24866401))
  • although rare, the expansion may play a role in the pathogenesis of Rapid Eye Movement Sleep Behavior Disorder (RBD) (PMID: 25377888))
  • C9orf72 repeat expansion disrupts nucleocytoplasmic transport (PMID: 26308891))