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]

Biomedical Dictionary

The Biomedical Dictionary is a comprehensive and professional collection of biological academic terms and subject datas. All explanations are supported by authoritative books or high impact factor literatures, and you can acquire accurate explanations of the biomedical terms you want to know.

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z #

Name
Email *

	Sorry, but the email address you supplied was invalid.