title: Proton MR spectroscopy of mitochondrial diseases: analysis of brain metabolic abnormalities and their possible diagnostic relevance.
abstract: OBJECTIVE
  Proton (hydrogen-1 [(1)H]) MR spectroscopy is a useful diagnostic tool in many metabolic diseases, but only scattered and inconclusive data are available on mitochondrial diseases. We performed MR imaging and (1)H MR spectroscopy of the brain in patients with different types of primary mitochondrial diseases to investigate the role of (1)H MR spectroscopy in the clinical evaluation of these disorders.
  
  
  METHODS
  In 15 patients (11 adults, four children) with mitochondrial diseases, localized MR spectra were obtained at short TEs in cerebellar white matter, paratrigonal white matter, and parieto-occipital cortex that appeared normal on MR images. Additional spectra of basal ganglia and cortical gray matter structural lesions were obtained in three patients.
  
  
  RESULTS
  A significant choline reduction and N-acetylaspartate reduction were found in areas that appeared normal on MR images. Lactate was never found in areas that appeared normal on MR images, except in two children in whom MR studies were performed during episodes of symptom exacerbation and revealed elevated lactate both in areas that appeared damaged on MR images and in normal-appearing areas. An additional abnormal signal at 0.9 ppm was found in a consistent number of studies.
  
  
  CONCLUSIONS
  (1)H MR spectroscopy proved to be a useful investigational tool for mitochondrial diseases, as it enabled detection of metabolic abnormalities even in areas of brain that appeared normal on MR images, especially when it was performed during episodes of clinical relapses or clinical exacerbation.
authors: U.O. di Neuroradiologia, Ospedale S. Chiara, Pisa, Italy. Istituto Scientifico Stella Maris, Pisa, Italy.
authors: M Cristina
authors: MC
authors: Bianchi
authors: Michela
authors: M
authors: Tosetti
authors: Roberta
authors: R
authors: Battini
authors: Maria L
authors: ML
authors: Manca
authors: Michelangelo
authors: M
authors: Mancuso
authors: Giovanni
authors: G
authors: Cioni
authors: Raffaello
authors: R
authors: Canapicchi
authors: Gabriele
authors: G
authors: Siciliano
mesh_terms: D000328:Adult; D000368:Aged; D001224:Aspartic Acid / Q000031:analogs & derivatives* / Q000378:metabolism; D001921:Brain / Q000378:metabolism*; D002648:Child; D002675:Child, Preschool; D002794:Choline / Q000378:metabolism; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D019344:Lactic Acid / Q000378:metabolism; D008279:Magnetic Resonance Imaging; D009682:Magnetic Resonance Spectroscopy; D008297:Male; D008875:Middle Aged; D028361:Mitochondrial Diseases / Q000175:diagnosis* / Q000378:metabolism*; D011522:Protons
chemical_list: D011522:Protons; D001224:Aspartic Acid; D019344:Lactic Acid; C000179:N-acetylaspartate; D002794:Choline