PIGMENTARY PALLIDAL DEGENERATIONS
\pɪɡmˈɛntəɹi pˈalɪdə͡l dɪd͡ʒˌɛnəɹˈe͡ɪʃənz], \pɪɡmˈɛntəɹi pˈalɪdəl dɪdʒˌɛnəɹˈeɪʃənz], \p_ɪ_ɡ_m_ˈɛ_n_t_ə_ɹ_i p_ˈa_l_ɪ_d_əl d_ɪ_dʒ_ˌɛ_n_ə_ɹ_ˈeɪ_ʃ_ə_n_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.