Editorial
Copyright ©2014 Baishideng Publishing Group Co.
World J Neurol. Mar 28, 2014; 4(1): 1-6
Published online Mar 28, 2014. doi: 10.5316/wjn.v4.i1.1
Table 1 Genotype-phenotype correlation in primary coenzyme Q10 deficiencies
Clinical featuresAge at onsetResponse to CoQ10 supplementationRef.
PDSS1Severe infantile multi-systemic disease1-2 yearImproved and alive[12]
PDSS2Severe infantile multi-systemic disease3 moNo clinical response[13]
Leigh syndrome
COQ2Nephropathy Severe infantile multi-systemic diseaseInfantile-or early childhood-onsetDramatic improvement of neurological manifestations and nephritic syndrome[12,14-17]
Multiple system atrophyAdult-onsetUnknown[8]
COQ4Encephalomyopathy< 3 yrSignificant improvement of neuromuscular symptoms[18]
COQ6Nephropathy with sensorineural deafnessInfantile-or early childhood-onsetImprovement of nephritic syndrome and hearing loss[19]
Severe infantile multi-systemic disease< 3 yr
COQ8 (CABC1)Cerebellar ataxiaJuvenile-or adult-onsetSevere neurological deficit with epilepsy ~mild improvement of ataxia[20-23]
COQ9Severe infantile multi-systemic diseaseBirthNo clinical response[24]