Holmes on steroids

Benzodiazepines may influence neurosteroid metabolism by virtue of their actions on translocator protein (TSPO; "peripheral benzodiazepine receptor"). [59] The pharmacological actions of benzodiazepines at the GABA A receptor are similar to those of neurosteroids . Factors which affect the ability of individual benzodiazepines to alter neurosteroid levels may depend upon whether the individual benzodiazepine drug interacts with TSPO. Some benzodiazepines may also inhibit neurosteroidogenic enzymes reducing neurosteroid synthesis. [60]

Margolin et al. (2013) studied 8 patients with cerebellar ataxia and hypogonadotropic hypogonadism, 3 of whom were sibs from a consanguineous Palestinian family originally reported by Seminara et al. (2002). The 8 patients, all of whom carried mutations in the RNF216 gene, had similar clinical histories, presenting in adolescence or early adulthood with hypogonadotropic hypogonadism due to defects at the hypothalamic and pituitary levels of the reproductive endocrine axis, but no other pituitary abnormalities. Dysarthria was the initial neurologic symptom in some patients, but ataxia developed in all patients, leading to wheelchair dependency and to bed confinement for some. Dementia was also prominent, with personality changes and memory loss occurring at the onset of disease, followed by mutism and uncoordinated, purposeless movements during the end stages. Neurologic imaging revealed striking similarities, with cerebellar and cortical atrophy but no abnormalities of the pituitary gland. Another 4 patients with ataxia and hypogonadotropic hypogonadism, who did not have mutations in the RNF216 gene, did not develop dementia, and no cause for their ataxia was discovered despite extensive evaluation. Three of the latter patients displayed oculomotor abnormalities, including nystagmus and ophthalmoplegia, features that were not seen in any of the patients with RNF216 mutations.

Holmes on steroids

holmes on steroids


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