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GTR Home > Conditions/Phenotypes > Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Synonyms
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia; VCP-Related Amyotrophic Lateral Sclerosis; VCP-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia; VCP-Related Amyotrophic Lateral Sclerosis/Frontotemporal Dementia

Summary

Frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (FTDALS6) is an autosomal dominant neurodegenerative disorder with highly variable manifestations. Some patients present in adulthood with progressive FTD, often classified as the 'behavioral variant,' which is characterized by reduced empathy, impulsive behavior, personality changes, and reduced verbal output. Other patients present with features of amyotrophic lateral sclerosis (ALS), which is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of this disease include pallor of the corticospinal tract due to loss of motor neurons (in ALS). In both ALS and FTD, there are ubiquitin-positive inclusions within surviving neurons as well as deposition of pathologic TDP43 (TARDBP; 605078) or p62 (SQSTM1; 601530) aggregates. Patients with a D395G mutation (601023.0014) have been shown to develop pathologic tau (MAPT; 157140) aggregates. Some patients with the disorder may have features of both diseases, and there is significant interfamilial and intrafamilial phenotypic variability (summary by Johnson et al., 2010; Wong et al., 2018; Al-Obeidi et al., 2018; Darwich et al., 2020). For a general phenotypic description and a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (105550). [from OMIM]

Available tests

47 tests are in the database for this condition.

Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CDC48, FTDALS6, TERA, p97, VCP
    Summary: valosin containing protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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