David H. Margolin, M avis .D., Ph.D., Maria Kousi, Ph.D., Yee-Ming Chan, M.D., Ph.D., Elaine T. Lim, M.S., Jeremy D. Schmahmann, M.D., Marios Hadjivassiliou, M.D., Janet E. Hall, M.D., Ibrahim Adam, M.D., Andrew Dwyer, N.P., Lacey Plummer, B.S., Stephanie V. Aldrin, B.A., Julia O’Rourke, Ph.D., Andrew Kirby, B.S., Kasper Lage, Ph.D., Aubrey Milunsky, M.B., B.Ch., D.Sc., Jeff M. Milunsky, M.D., Jennifer Chan, M.D., E. Tessa Hedley-Whyte, M.D., Tag J. Daly, Ph.D., Nicholas Katsanis, Ph.D., and Stephanie B. Seminara, M.D.: Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination In recent years, we’ve noticed great advances in the elucidation of genetic factors behind cerebellar ataxia, with identified genes regulating a wide spectrum of cellular functions newly, including intracellular signaling, tau regulation, and mitochondrial function.1 However, a genetic defect can’t be within approximately 40 percent of sufferers with ataxia,1 including those in whom ataxia is associated with reproductive endocrine failing, a syndrome first reported by Gordon Holmes in 1908.2 Most patients with this syndrome possess a hypogonadotropic state, with defective secretion of gonadotropins by the pituitary gland.3-12 Strikingly, genes associated with ataxia have small functional overlap with genes connected with hypogonadotropic hypogonadism, which encode proteins involved in the biologic function of the neurons that secrete gonadotropin-releasing hormone .13 A decade ago, we described a consanguineous family members with a syndrome of cerebellar ataxia, dementia, and hypogonadotropic hypogonadism.12 Here we report the results of whole-exome and targeted sequencing performed to identify mutations that underlie the syndrome in this kindred and in unrelated sufferers.
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