Table 2.

X-Linked Leigh Syndrome Spectrum

GeneProportion of LSS Caused by a Hemizygous or Heterozygous Variant in GeneDistinguishing FeaturesLaboratory FindingsReference
PDHA1 ~10%Psychomotor retardation; seizures; choreoathetosis; dystonia; episodic ataxia in some; microcephaly; cerebral atrophy; cystic lesions in basal ganglia, brain stem, & cerebral hemispheres; agenesis of CC; facial dysmorphism↓/↓-normal lactate/pyruvate ratio in blood & CSF; PDH deficiency (fbs) Rahman et al [1996]
NDUFA1 <1%DD; axial hypotonia; nystagmus; choreoathetosis; myoclonic epilepsy; survival to 30s in 2 casesComplex I deficiency (mb) Fernandez-Moreira et al [2007]
AIFM1 <1%Encephalomyopathy w/bilateral striatal lesionsMultiple RCE deficiencies (mb) Ghezzi et al [2010]

CC = corpus callosum; CSF = cerebrospinal fluid; DD = developmental delay; fbs = cultured skin fibroblasts; LSS = Leigh syndrome spectrum; mb = muscle biopsy; PDH = pyruvate dehydrogenase; RCE = respiratory chain enzyme

From: Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview

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