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Leigh's disease due to a new mutation in the PDHX gene
Author(s) -
Schiff Manuel,
Miné Manuele,
Brivet Michèle,
Marsac Cécile,
ElmalehBergés Monique,
Evrard Philippe,
Ogier De Baulny Hélène
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20818
Subject(s) - leigh disease , pyruvate dehydrogenase complex , mutation , white matter , encephalopathy , gene , biology , medicine , pathology , magnetic resonance imaging , genetics , biochemistry , radiology , enzyme
Objective To describe the clinical course, neuroradiological presentation, biochemical and molecular studies of a new patient with pyruvate dehydrogenase complex (PDHc) deficiency. To compare this case with the data on other published cases. Methods Brain magnetic resonance imaging (MRI), basal metabolic investigations with lactate measurements in body fluids, PDHc activity assay on cultured skin fibroblasts, immunoblot analysis and molecular studies (polymerase chain reaction [PCR] and sequencing procedures). Results Our patient accused an unspecific encephalopathy for years and presented at 13 years of age an acute deterioration with basal ganglia necrosis and subcortical white matter involvement. PDHc deficiency was secondary to a large deletion (3913 bp) in the PDHX gene, which encodes E3 binding protein (E3BP) subunit. Interpretation These data provide an additional case of E3BP deficiency with a unique and previously unreported deletion in the PDHX gene. Ann Neurol 2006;59:709–714