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Amyotrophic lateral sclerosis type 10

Synonyms
AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND WITH TDP43 INCLUSIONS; TARDBP-Related Amyotrophic Lateral Sclerosis

Summary

Excerpted from the GeneReview: TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia
In this GeneReview, TARDBP amyotrophic lateral sclerosis-frontotemporal dementia (TARDBP-ALS-FTD) refers to the spectrum of phenotypes caused by pathogenic variants in TARDBP, the gene encoding TDP-43. The phenotypic spectrum encompasses pure (i.e., without other neurologic findings) amyotrophic lateral sclerosis (ALS; most common), pure (i.e., without other neurologic findings) frontotemporal dementia (FTD; rare), a combination of ALS and FTD, and atypical neurologic phenotypes (very rare). Individuals with the same TARDBP pathogenic variant (even within the same family) may have clinical features that vary in both type and severity. Common manifestations are dysarthria and dysphagia; less common manifestations can include parkinsonism, cognitive deterioration, and behavioral and psychological manifestations of dementia. Life expectancy for TARDBP-ALS is highly variable and mainly associated with an individual's clinical features; overall disease duration averages three to five years. For TARDBP-FTD, disease duration averages one to 16 years.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Vaishnavi Manohar
Leon Crowley
Jemeen Sreedharan
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Available tests

47 tests are in the database for this condition.

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Clinical tests (47 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ALS10, TDP-43, TARDBP
    Summary: TAR DNA binding protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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