Frontotemporal dementia and/or amyotrophic lateral sclerosis 6

Preferred Label : Frontotemporal dementia and/or amyotrophic lateral sclerosis 6;

Symbol : FTDALS6;

CISMeF acronym : ALS14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Amyotrophic lateral sclerosis 14 with or without frontotemporal dementia; ALS14;

Description : Amyotrophic lateral sclerosis (ALS) 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 the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic TDP43 (TARDBP; 605078) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010). See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD; 167320), which is also caused by mutation in the VCP gene and shows some overlapping features. In some families with a VCP mutation, some family members may have ALS14, and other members may have IBMPFD.;

Prefixed ID : #613954;

Details

Origin ID

613954;

UMLS CUI

C5436279;

Currated CISMeF NLP mapping
- Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia [NCIt concept]
- amyotrophic lateral sclerosis type 14 [DO Concept]
DO Cross reference
- amyotrophic lateral sclerosis type 14 [DO Concept]
Genes related to phenotype
- Valosin-containing protein [OMIM gene]
HPO term(s)
- Abnormal lower motor neuron morphology [HPO term]
- Amyotrophic lateral sclerosis [HPO term]
- Ankle clonus [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- Brisk reflexes [HPO term]
- Depression [HPO term]
- Difficulty walking [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- EMG: chronic denervation signs [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Fasciculations [HPO term]
- Increased variability in muscle fiber diameter [HPO term]
- Limb muscle weakness [HPO term]
- Lower limb muscle weakness [HPO term]
- Lower limb spasticity [HPO term]
- Middle age onset [HPO term]
- Muscle weakness [HPO term]
- Personality changes [HPO term]
- Proximal muscle weakness in lower limbs [HPO term]
- Proximal muscle weakness in upper limbs [HPO term]
- Respiratory failure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Tetraparesis [HPO term]
- Type 1 muscle fiber predominance [HPO term]
ORDO concept(s)
- Amyotrophic lateral sclerosis [ORDO Disease]
- Frontotemporal dementia with motor neuron disease [ORDO Disease]
See also inter- (CISMeF)
- VCP wt Allele [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amyotrophic Lateral Sclerosis 14, With or Without Frontotemporal Dementia [NCIt concept]
- amyotrophic lateral sclerosis type 14 [DO Concept]

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