LATE INFANTILE NEUROAXONAL DYSTROPHY
\lˈe͡ɪt ˈɪnfəntˌa͡ɪl njˈuːɹə͡ʊksˌɒnə͡l dˈɪstɹəfi], \lˈeɪt ˈɪnfəntˌaɪl njˈuːɹəʊksˌɒnəl dˈɪstɹəfi], \l_ˈeɪ_t ˈɪ_n_f_ə_n_t_ˌaɪ_l n_j_ˈuː_ɹ_əʊ_k_s_ˌɒ_n_əl d_ˈɪ_s_t_ɹ_ə_f_i]\
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A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)
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Dopamine Acetyltransferase
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Nearby Words
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- Late Infantile Neuroaxonal Dystrophy
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