SPORADIC FORM OF CANAVAN DISEASE
\spɔːɹˈadɪk fˈɔːm ɒv kˈanɐvˌan dɪzˈiːz], \spɔːɹˈadɪk fˈɔːm ɒv kˈanɐvˌan dɪzˈiːz], \s_p_ɔː_ɹ_ˈa_d_ɪ_k f_ˈɔː_m ɒ_v k_ˈa_n_ɐ_v_ˌa_n d_ɪ_z_ˈiː_z]\
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A rare neurodegenerative condition of infancy or childhood characterized by white matter vacuolization and demeylination that gives rise to a spongy appearance. Aspartoacylase deficiency leads to an accumulation of N-acetylaspartate in astrocytes. Inheritance may be autosomal recessive or the illness may occur sporadically. This illness occurs more frequently in individuals of Ashkenazic Jewish descent. The neonatal form features the onset of hypotonia and lethargy at birth, rapidly progressing to coma and death. The infantile form features developmental delay, DYSKINESIAS, hypotonia, spasticity, blindness, and megalencephaly. The juvenile form is characterized by ATAXIA; OPTIC ATROPHY; and DEMENTIA. (From Adams et al., Principles of Neurology, 6th ed, p944; Am J Med Genet 1988 Feb;29 (2):463-71)
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Collagen Induced Arthritis
- ARTHRITIS that is induced in experimental animals. Immunological and infectious agents can be used to develop models. These methods include injections of stimulators the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN.