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disease: Amyotrophic lateral sclerosis type 10

id296
nameAmyotrophic lateral sclerosis type 10
descriptionTARDBP-related amyotrophic lateral sclerosis (TARDBP-related ALS) is characterized by upper motor neuron (UMN) and lower motor neuron (LMN) disease that appears indistinguishable from ALS of other known and unknown causes based on gender ratio, age of onset, symptom distribution, and severity of disease. The male to female ratio is 1.6 to 1. Mean age of onset is 54 ± 12 years. UMN manifestations can include stiffness, spasticity, hyperreflexia, and pseudobulbar affect; LMN manifestations often include weakness accompanied by muscle atrophy, fasciculations, and cramping. Limb onset occurs in 80% and bulbar onset in 20%. Affected individuals typically succumb to respiratory failure when phrenic and thoracic motor neurons become severely involved.
variant-disease NM_007375.3(TARDBP):c.869G>C (p.Gly290Ala) AND Amyotrophic lateral sclerosis type 10
NM_007375.3(TARDBP):c.*83T>C AND Amyotrophic lateral sclerosis type 10
NM_007375.3(TARDBP):c.881G>T (p.Gly294Val) AND Amyotrophic lateral sclerosis type 10
NM_007375.3(TARDBP):c.881G>C (p.Gly294Ala) AND Amyotrophic lateral sclerosis type 10
NM_007375.3(TARDBP):c.1028A>G (p.Gln343Arg) AND Amyotrophic lateral sclerosis type 10
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