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Axonal Dysfunction in the Deep White Matter in Machado‐Joseph Disease
Author(s) -
D'Abreu Anelyssa,
França Jr Marcondes,
Appenzeller Simone,
LopesCendes Iscia,
Cendes Fernando
Publication year - 2009
Publication title -
journal of neuroimaging
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.822
H-Index - 64
eISSN - 1552-6569
pISSN - 1051-2284
DOI - 10.1111/j.1552-6569.2008.00260.x
Subject(s) - medicine , creatine , white matter , corpus callosum , phosphocreatine , nuclear medicine , machado–joseph disease , choline , splenium , gastroenterology , cardiology , endocrinology , pathology , magnetic resonance imaging , radiology , disease , spinocerebellar ataxia , energy metabolism
We evaluated spectroscopy findings at the deep white matter in Machado‐Joseph disease (MJD). We obtained brain MRI and single‐voxel proton MR spectroscopy (MRS) over the superior‐posterior region of the left hemisphere at the level of the corpus callosum in 40 patients (44.6 ± 2.3 years‐old) and 27 controls (31.4 ± 3.6 years). Four patients were excluded due to poor quality spectra. We observed a decrease in signal intensity of N‐acetylaspartate relative to creatine‐phosphocreatine signal (NAA/Cr) in MJD compared to control [1.63 ± 0.41 (1.15‐2.76) versus 1.97 ± .51 (1.50‐2.92); U test = 219.0; P < .001]. No statistical difference was observed in choline‐containing compounds relative to creatine (Cho/Cr). There was no significant correlation between NAA/Cr and clinical and genetic variables. Due to the younger age of the control group, we performed a secondary analysis in a subgroup of 15 MJD patients matched by age to 15 controls. Matching was performed blindly to MRS results and subject identification, except for age and sex. A statistically significant difference was observed in NAA/Cr ratios (U test = 44.0; P = .004), as well as Cho/Cr levels (U test = 53.0; P = .014). We conclude that the metabolic abnormalities observed in the deep white matter in MJD suggest extensive neuronal and axonal dysfunction in these patients.