title: (1)H magnetic resonance spectroscopy of autosomal ataxias.
abstract: 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.
authors.affiliation: Département de radiologie, Hôpital Saint-Luc du CHUM, 1058 St-Denis, Montréal, Québec, Canada H2X 3J4.
authors.forename: Martin
authors.initials: M
authors.lastname: Viau
authors.forename: Luc
authors.initials: L
authors.lastname: Marchand
authors.forename: Céline
authors.initials: C
authors.lastname: Bard
authors.forename: Yvan
authors.initials: Y
authors.lastname: Boulanger
mesh_terms: D000328:Adult; D000704:Analysis of Variance; D001224:Aspartic Acid / Q000031:analogs & derivatives / Q000032:analysis; D001259:Ataxia / Q000145:classification / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology*; D001921:Brain / Q000000981:diagnostic imaging / Q000473:pathology; D001931:Brain Mapping; D002794:Choline / Q000032:analysis; D003401:Creatine / Q000032:analysis; D005260:Female; D006801:Humans; D007091:Image Processing, Computer-Assisted / Q000379:methods; D008279:Magnetic Resonance Imaging / Q000379:methods; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D011522:Protons; D011877:Radionuclide Imaging
chemical_list: D011522:Protons; D001224:Aspartic Acid; C000179:N-acetylaspartate; D003401:Creatine; D002794:Choline