Boucher–Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature

@article{Tarnutzer2014BoucherNeuhuserSC,
  title={Boucher–Neuh{\"a}user syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature},
  author={Alexander Andrea Tarnutzer and Christina Gerth-Kahlert and D. Timmann and Dae Il Chang and Florian Harmuth and Peter Bauer and Dominik Straumann and Matthis Synofzik},
  journal={Journal of Neurology},
  year={2014},
  volume={262},
  pages={194-202}
}
The combination of progressive cerebellar degeneration, hypogonadotropic hypogonadism and chorioretinal dystrophy defines the rare Boucher–Neuhäuser syndrome (BNS), which has recently been linked to autosomal-recessive mutations in the PNPLA6 gene in four index patients. Here we present two novel unrelated patients with BNS, where we identified four recessive PNPLA6 mutations (3 of them novel) as the genetic cause, using a targeted high-throughput approach. This finding provides the first… CONTINUE READING