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GENATLAS PHENOTYPE

last update : 21-12-2016

Symbol	ALS10
Location	1p36.22
Name	amyotrophic lateral sclerosis 10
Corresponding gene	TARDBP
Main clinical features	neurodegenerative disorder characterized by the death of motor neurons in the brain, brainstem, and spinal cord, resulting in fatal paralysis usually begins with asymmetric involvement of the muscles in middle adult life
Genetic determination	autosomal dominant
Related entries	including frontotemporal lobar degeneration, TARDBP-related
Function/system disorder	neurology
Type	disease

Remark(s)

accumulation of TARDBP is a common process in certain neurodegenerative disorders (PMID: 17439983)) characterized primarily by cytoplasmic accumulation of TARDBP into round inclusions, skeins or threads that are associated with coincident nuclear clearing of TARDBP in neurons and glial cells, but nuclear inclusions also occur albeit less commonly (PMID: 19808791)) TARDBP mislocalizes to the cytoplasm of neurons and glial cells to form protein aggregates in most cases of sporadic ALS (PMID: 20740002))