Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 9-week-old Jack Russell terrier with progressive ataxia had histopathological lesions consistent with neuroaxonal dystrophy. Gross observation revealed absence of the septum pellucidum, hypoplasia of the corpus callosum and marked bilateral hydrocephalus. Light microscopy of the CNS revealed extensive axonal swellings principally in the gray matter of the brain stem where the sensory nuclei were most affected. Ultrastructurally, spheroids were identified as axonal terminals and probably dystrophic boutons; they were characterized by accumulations of membrane bound bodies. Clinical and morphological findings are similar to those identified in human infantile neuroaxonal dystrophy (Seitelberger's disease).
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PMID:Neuroaxonal dystrophy in a Jack Russell terrier pup resembling human infantile neuroaxonal dystrophy. 846 99

Infantile neuroaxonal dystrophy is a rare neurodegenerative disorder, with onset in the first or second year of life. Mutations in the PLA2G6 gene encoding iPLA2-VI, a calcium-independent phospholipase, have been identified in these children. In classic infantile neuroaxonal dystrophy-affected children, psychomotor regression is the most frequent presentation, usually with ataxia and optic atrophy, followed by the development of tetraparesis. We report a child carrying a homozygous mutation in the PLA2G6 gene with neonatal onset of disease and somewhat different clinical phenotype such as severe congenital hypotonia, marked weakness, and bulbar signs suggesting that infantile neuroaxonal dystrophy can start at birth with atypical phenotype.
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PMID:A case of infantile neuroaxonal dystrophy of neonatal onset. 2487 Mar 68