Learn About Boucher-Neuhauser Syndrome

What is the definition of Boucher-Neuhauser Syndrome?

Boucher-Neuhäuser syndrome is a rare disorder that affects movement, vision, and sexual development. It is part of a continuous spectrum of neurological conditions, known as PNPLA6-related disorders, that share a genetic cause and have a combination of overlapping features. Boucher-Neuhäuser syndrome is characterized by three specific features: ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy.

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What are the causes of Boucher-Neuhauser Syndrome?

Most cases of Boucher-Neuhäuser syndrome are caused by mutations in the PNPLA6 gene. Such mutations are the only known cause of the condition. Researchers speculate that as-yet-unidentified mutations in the PNPLA6 gene or changes in other genes are involved in the remainder of cases.

How prevalent is Boucher-Neuhauser Syndrome?

Boucher-Neuhäuser syndrome is a rare condition. Its prevalence is unknown.

Is Boucher-Neuhauser Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

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Who are the sources who wrote this article ?

Published Date: October 01, 2016Published By: National Institutes of Health

What are the Latest Advances for Boucher-Neuhauser Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.