Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia (ALS22)

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OMIM 56 616208 OMIM Phenotypic Series 56 PS105400 MeSH 43 D000690

MedGen 41 C4015512 CN225414 SNOMED-CT via HPO 68 230270009 263681008 86044005 UMLS 71 C4015512

UniProtKB/Swiss-Prot : ⁷³ Amyotrophic lateral sclerosis 22, 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 ALS22 may develop frontotemporal dementia.

MalaCards based summary : Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia, is also known as als22. An important gene associated with Amyotrophic Lateral Sclerosis 22 with or Without Frontotemporal Dementia is TUBA4A (Tubulin Alpha 4a). Affiliated tissues include brain and spinal cord, and related phenotypes are frontotemporal dementia and amyotrophic lateral sclerosis

More information from OMIM: 616208 PS105400

Clinical features from OMIM:

616208

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