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GTR Home > Conditions/Phenotypes > Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Frontotemporal dementia and/or amyotrophic lateral sclerosis 7

Synonyms
AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED; Amyotrophic lateral sclerosis 17; CHMP2B-related frontotemporal dementia; Frontotemporal dementia, chromosome 3-linked

Summary

Excerpted from the GeneReview: CHMP2B Frontotemporal Dementia
CHMP2B frontotemporal dementia (CHMP2B-FTD) has been described in a single family from Denmark, in one individual with familial FTD from Belgium, and in one individual with FTD and no family history. It typically starts between ages 46 and 65 years with subtle personality changes and slowly progressive behavioral changes, dysexecutive syndrome, dyscalculia, and language disturbances. Disinhibition or loss of initiative is the most common presenting symptom. The disease progresses over a few years into profound dementia with extrapyramidal symptoms and mutism. Several individuals have developed an asymmetric akinetic rigid syndrome with arm and gait dystonia and pyramidal signs that may be related to treatment with neuroleptic drugs. Symptoms and disease course are highly variable. Disease duration may be as short as three years or longer than 20 years.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Peter Roos
Ida E Holm
Jørgen E Nielsen
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Available tests

39 tests are in the database for this condition.

Clinical tests (39 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS17, CHMP2.5, DMT1, FTDALS7, VPS2-2, VPS2B, CHMP2B
    Summary: charged multivesicular body protein 2B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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