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Erschienen in: Journal of Neurology 9/2014

01.09.2014 | Original Communication

Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations

verfasst von: Rocco Liguori, Maria Pia Giannoccaro, Alessia Arnoldi, Andrea Citterio, Caterina Tonon, Raffaele Lodi, Nereo Bresolin, Maria Teresa Bassi

Erschienen in: Journal of Neurology | Ausgabe 9/2014

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Abstract

Mutations in DDHD1 gene have been associated with the SPG28 subtype of Hereditary Spastic Paraparesis (HSP). Clinical phenotype includes axonal neuropathy, distal sensory loss, and cerebellar eye movement disturbances. We screened 96 index subjects from recessive HSP families for mutation and identified one family with two sibs carrying mutations in DDHD1 gene. Clinical, neuropsychological, and neuroimaging studies were performed, including MR spectroscopy of brain and muscle of the two mutated patients. Two novel heterozygous mutations in DDHD1 were found in the affected members of one family, with clinical features overlapping the SPG28 subtype. Of note, MR spectroscopy of brain and muscle in these patients indicated a mild deficit of brain energy metabolism in the oldest and most severely affected patient, while an impairment of energy metabolism was found in the skeletal muscle of both patients. Unlike the DDHD2 mutated patients, no evidence of lipid accumulation in the brain was found. Our data along with those previously reported suggest a dysfunction in the OXPHOS system possibly due to mitochondrial lipid content modification, which could be a central mechanism in the pathogenesis of SPG28.
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Metadaten
Titel
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
verfasst von
Rocco Liguori
Maria Pia Giannoccaro
Alessia Arnoldi
Andrea Citterio
Caterina Tonon
Raffaele Lodi
Nereo Bresolin
Maria Teresa Bassi
Publikationsdatum
01.09.2014
Verlag
Springer Berlin Heidelberg
Erschienen in
Journal of Neurology / Ausgabe 9/2014
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI
https://doi.org/10.1007/s00415-014-7418-4

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