Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations

J Neurol Neurosurg Psychiatry. 2015 May;86(5):580-1. doi: 10.1136/jnnp-2014-307793. Epub 2014 Apr 30.
No abstract available

Keywords: CEREBELLAR ATAXIA; CEREBELLAR DEGENERATION; MOVEMENT DISORDERS; NEUROGENETICS; NEUROOPHTHALMOLOGY.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Female
  • Humans
  • Hypogonadism / genetics*
  • Hypogonadism / pathology*
  • Magnetic Resonance Imaging
  • Mutation
  • Neuroimaging
  • Phospholipases / genetics*
  • Retinal Dystrophies / genetics*
  • Retinal Dystrophies / pathology*
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / pathology*
  • Tomography, Optical Coherence

Substances

  • PNPLA6 protein, human
  • Phospholipases

Supplementary concepts

  • Chorioretinal Dystrophy, Spinocerebellar Ataxia, and Hypogonadotropic Hypogonadism