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)

Multiple forms of autosomal ataxia exist which can be identified by genetic testing. Due to their wide variety, the identification of the appropriate genetic test is difficult but could be aided by magnetic resonance data. In this study, magnetic resonance spectroscopy (MRS) and imaging (MRI) data were recorded for 20 ataxia patients of six different types and compared to 20 normal subjects. Spectra were acquired in the pons, left frontal lobe, left basal ganglia, left cerebellar hemisphere and vermis. Both metabolite spectra and absolute metabolite concentrations were determined. Differences in metabolite levels were observed between ataxia patients and control subjects and between ataxia patients of different types. A number of correlations were found between metabolite ratios, atrophy levels, number of repeats on the small and large allele, age at examination, symptoms duration and age at symptoms onset for ataxia patients. These MR characteristics are expected to be useful for the identification of the ataxia type.
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PMID:(1)H magnetic resonance spectroscopy of autosomal ataxias. 1596 76