HALLERVORDEN SPATZ DISEASE
\hˈaləvˌɔːdən spˈats dɪzˈiːz], \hˈaləvˌɔːdən spˈats dɪzˈiːz], \h_ˈa_l_ə_v_ˌɔː_d_ə_n s_p_ˈa_t_s d_ɪ_z_ˈiː_z]\
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A rare autosomal recessive degenerative disorder which usually presents in late childhood or adolescence. Clinical manifestations include progressive MUSCLE SPASTICITY; hyperreflexia; MUSCLE RIGIDITY; DYSTONIA; DYSARTHRIA; and intellectual deterioration which progresses to severe dementia over several years. Pathologic examination reveals neuronal atrophy in the globus pallidus and iron deposition in blood vessels and perivascular spaces. (From Adams et al., Principles of Neurology, 6th ed, p972; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp972-929)
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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.