Adult-onset leukodystrophies from respiratory chain disorders: Do they exist?

Ettore Salsano, Laura Farina, Costanza Lamperti, Giuseppe Piscosquito, Franco Salerno, Lucia Morandi, Franco Carrara, Eleonora Lamantea, Massimo Zeviani, Graziella Uziel, Mario Savoiardo, Davide Pareyson

Research output: Contribution to journalArticlepeer-review


Respiratory chain disorders (RCDs) have been included in the differential diagnosis of adult-onset leukodystrophies. Here, we first report a 32-year-old female with an atypical, adult-onset, non-syndromic RCD due to a mitochondrial DNA deletion and manifesting as complicated ataxia. A 'leukodystrophic' pattern was found on brain MRI, but it was neither isolated nor predominant because of the presence of overt basal ganglia and infratentorial lesions, which led us to the proper diagnosis. Subsequently, we evaluated our series of patients with RCDs in order to verify whether a 'leukodystrophic' pattern with little or no involvement of deep grey structures and brainstem may be found in adult-onset RCDs, as reported in children. Among 52 patients with adult-onset RCDs, no case with a 'leukodystrophic' pattern was found, apart from three cases with a classical phenotype of mitochondrial neurogastrointestinal encephalopathy. In addition, no case of RCDs was found among six cases of adult-onset leukodystrophy of unknown origin and at least one feature suggestive of mitochondrial disease. The review of the literature was in agreement with these findings. Thus, we provide evidence that, unlike in children, RCDs should not be included in the differential diagnosis of adult-onset leukodystrophies, except when there are additional MRI findings or clinical features which unequivocally point towards a mitochondrial disorder.

Original languageEnglish
Pages (from-to)1617-1623
Number of pages7
JournalJournal of Neurology
Issue number6
Publication statusPublished - Jun 2013


  • Kearns-Sayre syndrome (KSS)
  • Leukodystrophy
  • Leukoencephalopathy
  • Mitochondrial
  • Mitochondrial neurogastrointestinal encephalopathy (MNGIE)
  • White matter

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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