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Loss-of-Function Mutations in PNPLA6 Encoding Neuropathy Target Esterase Underlie Pubertal Failure and Neurological Deficits in Gordon Holmes Syndrome

2014    Topaloglu, A. Kemal; Lomniczi, Alejandro; Kretzschmar, Doris; Dissen, Gregory A.; Kotan, L. Damla; McArdle, Craig A.; Koc, A. Filiz; Hamel, Ben C.; Guclu, Metin; Papatya, Esra D.; Eren, Erdal; Mengen, Eda; Gurbuz, Fatih; Cook, Mandy; Castellano, Juan M.; Kekil, M. Burcu; Mungan, Neslihan O.; Yuksel, Bilgin; Ojeda, Sergio R.

Context: Gordon Holmes syndrome (GHS) is characterized by cerebellar ataxia/atrophy and normosmic hypogonadotropic hypogonadism (nHH). The underlying pathophysiology of this combined neurodegeneration and nHH remains unknown.