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Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations
  1. Matthis Synofzik1,2,
  2. Christoph Kernstock3,
  3. Tobias B Haack4,5,
  4. Ludger Schöls1,2
  1. 1Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany
  2. 2German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany
  3. 3Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany
  4. 4Institute of Human Genetics, Technische Universität München, Munich, Germany
  5. 5Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany
  1. Correspondence to Dr Matthis Synofzik, Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, Hoppe-Seyler-Straße 3, University of Tübingen, Tübingen 72076, Germany; matthis.synofzik{at}

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A 37-year-old woman presented with progressive visual loss and primary amenorrhoea due to hypogonadotropic hypogonadism since 14 years of age. These symptoms were followed by cerebellar ataxia and lower limb spasticity, leading to wheelchair dependency at the age of 30 years. At examination at the age of 37 years, her vision was reduced to perception of hand motion, thus meeting the criteria of legal blindness (defined as visual acuity <20/400). This progressive visual loss was caused by chorioretinal degeneration as demonstrated by fundoscopy and optical coherence tomography (figure 1). Whereas patellar tendon reflexes were increased, Achilles tendon reflexes were …

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  • Contributors MS: acquisition of data; design and conceptualisation of the study; drafting the manuscript. CK and TBH: acquisition of data; revising the manuscript. LS: conceptualisation and supervision of the study; revising the manuscript.

  • Competing interests MS received honoraria from Actelion Pharmaceuticals.

  • Patient consent Obtained.

  • Ethics approval Ethics Committee of the University of Tübingen, Germany.

  • Provenance and peer review Not commissioned; externally peer reviewed.