Journal
MOLECULAR GENETICS AND METABOLISM
Volume 93, Issue 1, Pages 85-88Publisher
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2007.09.003
Keywords
1H MRS spectroscopy; cerebellum; mitochondrial respiratory; chain deficiency
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Cerebellar ataxia is known to occasionally occur in the course of mitochondrial disorders. We report on MR spectroscopy (1H MRS) evidence of elevated brain lactate in the cerebellar area of 11 patients with cerebellar ataxia ascribed to mitochondrial respiratory chain deficiency (RCD). 1H MRS spectroscopy evidence of lactate peak was found in the cerebellum of 9/11 cases, while no lactate was detected in the putamen in 8/11. We suggest using 1H MRS in cerebellar atrophy in the diagnosis of mitochondrial RCD. (C) 2007 Elsevier Inc. All rights reserved.
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