RAMSAY HUNT CEREBELLAR SYNDROME
\ɹˈamse͡ɪ hˈʌnt sˈɛɹɪbˌɛlə sˈɪndɹə͡ʊm], \ɹˈamseɪ hˈʌnt sˈɛɹɪbˌɛlə sˈɪndɹəʊm], \ɹ_ˈa_m_s_eɪ h_ˈʌ_n_t s_ˈɛ_ɹ_ɪ_b_ˌɛ_l_ə s_ˈɪ_n_d_ɹ_əʊ_m]\
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A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)
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Word of the day
Dopamine Acetyltransferase
- An enzyme that catalyzes the of groups from acetyl-CoA to arylamines. They have wide specificity for aromatic amines, particularly serotonin, and can also catalyze acetyl transfer between arylamines without CoA. EC 2.3.1.5.