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Synofzik, M., Gonzalez, M.A., Lourenco, C.M., Coutelier, M., Haack, T.B., Rebelo, A., et al. (2014) PNPLA6 Mutations Cause Boucher-Neuhäuser and Gordon Holmes Syndromes as Part of a Broad Neurodegenerative Spectrum. Brain, 137, 69-77.
https://doi.org/10.1093/brain/awt326

has been cited by the following article:

• TITLE: Hypergonadotrophic Hypogonadism with Cerebellar Ataxia in a Twenty-Six-Year-Old Female: A Case Report

  AUTHORS: Bibiana I. Oti, Geoffrey Okorie, Peter Chime, Ethel Chime, Birinus Ezeala-Adikaibe, Casmir Orjioke, Fintan Ekochin, Michael C. Abonyi

  KEYWORDS: Gordon Holmes Syndrome, Hypergonadotrophic Hypogonadism, Cerebellar Ataxia, Neuroendocrine Disorder

  JOURNAL NAME: Open Journal of Modern Neurosurgery, Vol.14 No.1, January 24, 2024

  ABSTRACT: Gordon Holmes Syndrome is a rare inherited disease characterized by both neurological and reproductive signs and symptoms. Most patients develop neurologic challenges in early adulthood and cerebellar ataxia occurs as the disease progresses. In the majority of patients, hypogonadism is hypogonadotropic but rarely hypergonadotropic. We report a case of a 26-year-old female in Nigeria, with hypergonadotropic hypogonadism and cerebellar atrophy from a non-consanguineous marriage and no family history.