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GTR Home > Conditions/Phenotypes > Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Frontotemporal dementia and/or amyotrophic lateral sclerosis 1

Synonyms
Frontotemporal dementia with motor neuron disease 1

Summary

C9orf72 frontotemporal dementia and/or amyotrophic lateral sclerosis (C9orf72-FTD/ALS) is characterized most often by frontotemporal dementia (FTD) and upper and lower motor neuron disease (MND); however, atypical presentations also occur. Age at onset is usually between 50 and 64 years (range: 20-91 years) irrespective of the presenting manifestations, which may be pure FTD, pure amyotrophic lateral sclerosis (ALS), or a combination of the two phenotypes. The clinical presentation is highly heterogeneous and may differ between and within families, causing an unpredictable pattern and age of onset of clinical manifestations. The presence of MND correlates with an earlier age of onset and a worse overall prognosis. [from GeneReviews]

Available tests

34 tests are in the database for this condition.

Clinical tests (34 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALSFTD, DENND9, DENNL72, FTDALS, FTDALS1, C9orf72
    Summary: C9orf72-SMCR8 complex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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