DISEASE: Ataxia, intention tremor, and hypotonia syndrome
Entry
H02552 Disease
Name
Ataxia, intention tremor, and hypotonia syndrome
Description
Ataxia, intention tremor, and hypotonia syndrome (ATITHS) is a childhood-onset ataxia syndrome. It has been suggested that heterozygous, loss-of-function variants in POU4F1 cause this disease. POU4F1 is expressed in the developing nervous system.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Movement disorders
8A03 Ataxic disorders
H02552 Ataxia, intention tremor, and hypotonia syndrome
Webb BD, Evans A, Naidich TP, M Bird L, Parikh S, Fernandez Garcia M, Henderson LB, Millan F, Si Y, Brennand KJ, Hung P, Rucker JC, Wheeler PG, Schadt EE
Title
Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor.
Targeted deletion of the mouse POU domain gene Brn-3a causes selective loss of neurons in the brainstem and trigeminal ganglion, uncoordinated limb movement, and impaired suckling.
