Gordon Holmes syndrome (GHS) is an autosomal recessive adult-onset neurodegenerative disease characterized by cognitive decline, dementia, and other clinical features such as ataxia and hypogonadotropism. Multiple loss-of-function mutations in RNF216 gene have recently been identified in patients suffering from GHS.
Margolin DH, Kousi M, Chan YM, Lim ET, Schmahmann JD, Hadjivassiliou M, Hall JE, Adam I, Dwyer A, Plummer L, Aldrin SV, O'Rourke J, Kirby A, Lage K, Milunsky A, Milunsky JM, Chan J, Hedley-Whyte ET, Daly MJ, Katsanis N, Seminara SB
タイトル
Ataxia, dementia, and hypogonadotropism caused by disordered ubiquitination.
