Ataxia, intention tremor, and hypotonia syndrome

Definition

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.

References:

[1]. Bryn D Webb, et al. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor. Hum Mutat. 2021 Jun;42(6):685-693. [Content Brief]

[2]. M Xiang, et al. 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. Proc Natl Acad Sci U S A. 1996 Oct 15;93(21):11950-5. [Content Brief]

生物医学辞典

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