Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia (ALS14)

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OMIM 57 613954 MedGen 42 C3151403 MeSH 44 D000690

SNOMED-CT via HPO 69 263681008 8011004 26544005 82470000 74035001 86044005 more UMLS 73 C3151403

OMIM : ⁵⁷ 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. For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (105400). (613954)

MalaCards based summary : Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia, also known as amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, is related to amyotrophic lateral sclerosis type 14. An important gene associated with Amyotrophic Lateral Sclerosis 14 with or Without Frontotemporal Dementia is VCP (Valosin Containing Protein). Affiliated tissues include brain, spinal cord and skeletal muscle, and related phenotypes are dysarthria and muscle weakness

UniProtKB/Swiss-Prot : ⁷⁵ Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia: A neurodegenerative disorder affecting upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis. Sensory abnormalities are absent. 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 aggregates. The etiology of amyotrophic lateral sclerosis is likely to be multifactorial, involving both genetic and environmental factors. The disease is inherited in 5-10% of the cases. Patients with ALS14 may develop frontotemporal dementia.

Clinical features from OMIM:

613954

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