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Erschienen in: Journal of Neurology 6/2013

01.06.2013 | Original Communication

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

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

Erschienen in: Journal of Neurology | Ausgabe 6/2013

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Abstract

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.
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Metadaten
Titel
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
verfasst von
Ettore Salsano
Laura Farina
Costanza Lamperti
Giuseppe Piscosquito
Franco Salerno
Lucia Morandi
Franco Carrara
Eleonora Lamantea
Massimo Zeviani
Graziella Uziel
Mario Savoiardo
Davide Pareyson
Publikationsdatum
01.06.2013
Verlag
Springer-Verlag
Erschienen in
Journal of Neurology / Ausgabe 6/2013
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-013-6844-z

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