Primary coenzyme Q10 deficiency due to COQ8A gene mutations

Abstract

Primary coenzyme Q10 (CoQ10) deficiency is a group of autosomal recessive cerebellar ataxias with defective mitochondrial respiration caused by multiple genetic mutations. The phenotype of primary CoQ10 deficiency is characterized by early-onset exercise intolerance, progressive cerebellar ataxia, intellectual disability, seizure, stroke-like episodes, mitochondrial myopathy, hypogonadism, and steroidresistant nephrotic syndrome, with the age at onset ranging from infancy to late adulthood (Alcazar-Fabra, Trevisson, &

Follow‐up of 25 patients with treatable ataxia: A comprehensive case series study

“…Compound heterozygous mutations in the COQ8A gene were confirmed by WES. After treatment with ubidecarenone for 2 years, the symptoms significantly improved 3 . In a 2‐year follow‐up, one of our patients improved with high doses of coQ10.…”

“…After treatment with ubidecarenone for 2 years, the symptoms significantly improved. 3 In a 2‐year follow‐up, one of our patients improved with high doses of coQ10. However, another patient, who was a 13‐year‐old girl with ataxia since 2.5 years of age and a history of coQ10 usage for 2 years, experienced super refractory epilepsy and a vegetative state with ventilator dependence.…”

“…The features of primary CoQ10 deficiency include early-onset exercise intolerance, progressive cerebellar ataxia, intellectual disability, seizure, stroke-like episodes, mitochondrial myopathy, hypogonadism, and steroidresistant nephrotic syndrome, with the age at onset ranging from infancy to late adulthood. 3 CoQ10 measurement in skeletal muscle and replacement with CoQ10, 30 mg/ kg/day orally, can be helpful. 2 AVED is a rare autosomal recessive neurodegenerative disorder with mutations in the gene encoding the atocopherol transfer protein (TTPA/aTTP) that results in defective transportation out of the liver and systemic vitamin E deficiency.…”

“…Primary coenzyme Q10 (CoQ10) deficiency is a group of cerebellar ataxias with mitochondrial respiration disorders caused by autosomal recessive multi‐genetic mutations. The features of primary CoQ10 deficiency include early‐onset exercise intolerance, progressive cerebellar ataxia, intellectual disability, seizure, stroke‐like episodes, mitochondrial myopathy, hypogonadism, and steroid‐resistant nephrotic syndrome, with the age at onset ranging from infancy to late adulthood 3 . CoQ10 measurement in skeletal muscle and replacement with CoQ10, 30 mg/kg/day orally, can be helpful 2…”

A Novel Coq8a Mutation in a Case with Juvenile Onset Coq10d4: Case Report and Literature Review

“…Some affected individuals develop seizures and have mild mental impairment, indicating variable severity. It can also be presented with mitochondrial myopathy, hypogonadism and steroid-resistant nephrotic syndrome (Zhang and et al 2020;Blumkin and et al2014). The age of onset of the disease varies from infancy to late adulthood.…”