Evidence for mitochondrial dysfunction in patients with alternating hemiplegia of childhood.

Abstract:

:Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low resonance intensities from phosphocreatine and an abnormally high calculated cytosolic free adenosine diphosphate concentration. These abnormalities are indicative of mitochondrial dysfunction. The combination of a central nervous system disorder and evidence of mitochondrial dysfunction in muscle suggests that alternating hemiplegia of childhood may represent a previously unrecognized phenotype of mitochondrial disease.

journal_name

Ann Neurol

journal_title

Annals of neurology

authors

Arnold DL,Silver K,Andermann F

doi

10.1002/ana.410330608

subject

Has Abstract

pub_date

1993-06-01 00:00:00

pages

604-7

issue

6

eissn

0364-5134

issn

1531-8249

journal_volume

33

pub_type

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