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GTR Home > Conditions/Phenotypes > Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Frontotemporal dementia and/or amyotrophic lateral sclerosis 8

Summary

Frontotemporal dementia and/or amyotrophic lateral sclerosis-8 (FTDALS8) is an autosomal dominant neurodegenerative disorder characterized by adult-onset dementia manifest as memory impairment, executive dysfunction, and behavioral or personality changes. Some patients may develop ALS or parkinsonism. Neuropathologic studies show frontotemporal lobar degeneration (FTLD) with tau (MAPT; 157140)- and TDP43 (605078)-immunoreactive inclusions (summary by Dobson-Stone et al., 2020). For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550). [from OMIM]

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRSS, CDMT, CYLD1, CYLDI, EAC, FTDALS8, MFT, MFT1, SBS, TEM, USPL2, CYLD
    Summary: CYLD lysine 63 deubiquitinase

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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