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.
Atrium Health Primary Care One Health Family Medicine & Urgent Care
Robyn Koeppen is a primary care provider, practicing in Family Medicine in Huntersville, North Carolina. Dr. Koeppen is rated as an Experienced provider by MediFind in the treatment of Boucher-Neuhauser Syndrome. Her top areas of expertise are Spinocerebellar Ataxia Type 7, Dentatorubral-Pallidoluysian Atrophy, Spinocerebellar Ataxia Type 1, and Spinocerebellar Ataxia Type 11. Dr. Koeppen is currently accepting new patients.
Atrium Health Neurology Specialty Care, A Facility Of Carolinas Medical Center
Danielle Doggett is a Neurologist in Charlotte, North Carolina. Dr. Doggett is rated as an Experienced provider by MediFind in the treatment of Boucher-Neuhauser Syndrome. Her top areas of expertise are Parkinson's Disease, Movement Disorders, Essential Tremor, Drug Induced Dyskinesia, and Deep Brain Stimulation. Dr. Doggett is currently accepting new patients.
Duke Neurology Morreene Road
Sneha Mantri is a Neurologist in Durham, North Carolina. Dr. Mantri is rated as an Advanced provider by MediFind in the treatment of Boucher-Neuhauser Syndrome. Her top areas of expertise are Parkinson's Disease, Movement Disorders, Supranuclear Ophthalmoplegia, Progressive Supranuclear Palsy, and Deep Brain Stimulation. Dr. Mantri is currently accepting new patients.
Published Date: October 01, 2016
Published By: National Institutes of Health