Boucher-Neuhauser SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About 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.
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.
Boucher-Neuhäuser syndrome is a rare condition. Its prevalence is unknown.
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.
Swedish Neuroscience Specialists - Movement Disorders
Movement disorders are most effectively treated by adopting a multidisciplinary approach and closely collaborating with the patient, the family and other caregivers. Every member of the clinical team is invaluable in delivering high-quality, high-value care to patients and their families. Dr. Khemani is the Medical Director of the Movement Disorders Program within the Swedish Neuroscience Institute. Dr. Khemani is rated as an Advanced provider by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 23 other conditions, according to our data. His clinical expertise encompasses Movement Disorders, Parkinson's Disease, Essential Tremor, Deep Brain Stimulation, and Orchiectomy. Dr. Khemani is board certified in American Board Of Psychiatry And Neurology. Dr. Khemani is currently accepting new patients.
Vanderbilt Medical Group- Teleneurology
Amy Brown is a Neurologist practicing medicine in Nashville, Tennessee. Dr. Brown is rated as an Advanced provider by MediFind in the treatment of Boucher-Neuhauser Syndrome. She is also highly rated in 35 other conditions, according to our data. Her clinical expertise encompasses Movement Disorders, Parkinson's Disease, Hereditary Ataxia, and Mcleod Neuroacanthocytosis Syndrome. Dr. Brown is board certified in .
Aurora Neuroscience Innovation
Taylor Finseth is a Neurologist practicing medicine in Milwaukee, Wisconsin. Dr. Finseth is rated as an Experienced provider by MediFind in the treatment of Boucher-Neuhauser Syndrome. He is also highly rated in 24 other conditions, according to our data. His clinical expertise encompasses Camptocormism, Parkinson's Disease, Movement Disorders, and Conversion Disorder. Dr. Finseth is board certified in American Board Of Psychiatry & Neurology.
Published Date: October 01, 2016
Published By: National Institutes of Health