Ataxia meets chorioretinal dystrophy and hypogonadism: Boucher-Neuhäuser syndrome due to PNPLA6 mutations.
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Matthis
M
Synofzik
Center for Ophthalmology, Institute for Ophthalmic Research, University of Tübingen, Tübingen, Germany.
Christoph
C
Kernstock
Institute of Human Genetics, Technische Universität München, Munich, Germany Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.
Tobias B
TB
Haack
Department of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany German Research Center for Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen, Germany.
Ludger
L
Schöls
D005260:Female; D006801:Humans; D007006:Hypogonadism / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D009154:Mutation; D059906:Neuroimaging; D010740:Phospholipases / Q000235:genetics*; D058499:Retinal Dystrophies / Q000235:genetics* / Q000473:pathology*; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology*; D041623:Tomography, Optical Coherence; D000217:Acyltransferases
D010740:Phospholipases; C586915:PNPLA6 protein, human; D000217:Acyltransferases
CEREBELLAR ATAXIA; CEREBELLAR DEGENERATION; MOVEMENT DISORDERS; NEUROGENETICS; NEUROOPHTHALMOLOGY