COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

Paprocka, Justyna; Nowak, Magdalena; Chuchra, Piotr; Śmigiel, Robert

doi:10.3390/metabo12100955

Cited by 7 publications

(4 citation statements)

References 84 publications

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“…This pathological variant, which is functionally validated by segregation and CoQ level, 30 is thought to affect the amino acids in the UbiB protein kinaselike family. 31 Psychiatric problems in patients with mitochondrial disorders were previously reported in the literature. 32,33 Depression is one of frequently reported associated symptoms of patients with CoQ8A mutation.…”

Section: Discussionmentioning

confidence: 91%

“…This pathological variant, which is functionally validated by segregation and CoQ level, 30 is thought to affect the amino acids in the UbiB protein kinase-like family. 31…”

Section: Discussionmentioning

confidence: 99%

“…11 We hypothesized that the difference in treatment effectiveness may be due to different neurological disability stages. 28,31 Spinocerebellar degeneration functional score (SDFS) is a rating scale to evaluate the disability stage that spans from 0 (no disability) to 7 (bedridden). The SDFS was significantly different between treatment responders in the study of Traschütz et al which was consistent with current study.…”

Section: Discussionmentioning

confidence: 99%

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Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature

Hojabri

Gilani

Irilouzadian

et al. 2023

Clin Med Insights Case Rep

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Background: Primary deficiency of coenzyme Q10 deficiency-4 (CoQ10D4) is a heterogeneous disorder affecting different age groups. The main clinical manifestation consists of cerebellar ataxia, exercise intolerance, and dystonia. Case report: We provide a case of adolescence-onset ataxia, head tremor, and proximal muscle weakness accompanied by psychiatric features and abnormal serum urea (49.4 mg/dL), lactate (7.5 mmol/L), and CoQ10 level (0.4 µg/mL). Brain-MRI demonstrated cerebellar atrophy, thinning of the corpus callosum, and loss of white matter. Whole exome sequencing showed a homozygous missense mutation (c.911C>T; p.A304V) in CoQ8A gene which is a rare mutation and responsible variant of CoQ10D4. After supplementary treatment with CoQ10 50 mg/twice a day for 2 months the clinical symptoms improved. Conclusion: These observations highlight the significance of the early diagnosis of potentially treatable CoQ8A mutation as well as patient education and follow-up. Our findings widen the spectrum of CoQ8A phenotypic features so that clinicians be familiar with the disease not only in severe childhood-onset ataxia but also in adolescence with accompanying psychiatric problems.

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Section: Discussionmentioning

confidence: 91%

“…This pathological variant, which is functionally validated by segregation and CoQ level, 30 is thought to affect the amino acids in the UbiB protein kinase-like family. 31…”

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature

Hojabri

Gilani

Irilouzadian

et al. 2023

Clin Med Insights Case Rep

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“…In 2022, a case report by Paprocka et al described a 22-month-old girl, who showed signs of regression. MRI of the brain and cervical spine showed no abnormalities [ 49 ]. The follow-up MRI at the age of 2.5 years still did not show any signs of cerebellar atrophy.…”

Section: Resultsmentioning

confidence: 99%

Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders

et al. 2023

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Coenzyme Q10 (CoQ10) is an endogenously synthesized lipid molecule. It is best known for its role as a cofactor within the mitochondrial respiratory chain where it functions in electron transfer and ATP synthesis. However, there are many other cellular pathways that also depend on the CoQ10 supply (redox homeostasis, ferroptosis and sulfide oxidation). The CoQ10 biosynthesis pathway consists of several enzymes, which are encoded by the nuclear DNA. The majority of these enzymes are responsible for modifications of the CoQ-head group (benzoquinone ring). Only three enzymes (PDSS1, PDSS2 and COQ2) are required for assembly and attachment of the polyisoprenoid side chain. The head-modifying enzymes may assemble into resolvable domains, representing COQ complexes. During the last two decades, numerous inborn errors in CoQ10 biosynthesis enzymes have been identified. Thus far, 11 disease genes are known (PDSS1, PDSS2, COQ2, COQ4, COQ5, COQ6, COQ7, COQ8A, COQ8B, COQ9 and HPDL). Disease onset is highly variable and ranges from the neonatal period to late adulthood. CoQ10 deficiency exerts detrimental effects on the nervous system. Potential consequences are neuronal death, neuroinflammation and cerebral gliosis. Clinical features include encephalopathy, regression, movement disorders, epilepsy and intellectual disability. Brain magnetic resonance imaging (MRI) is the most important tool for diagnostic evaluation of neurological damage in individuals with CoQ10 deficiency. However, due to the rarity of the different gene defects, information on disease manifestations within the central nervous system is scarce. This review aims to provide an overview of brain MRI patterns observed in primary CoQ10 biosynthesis disorders and to highlight disease-specific findings.

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Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures

Wang,

Lin,

et al. 2024

Cerebellum

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COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency

Cited by 7 publications

References 84 publications

Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature

Adolescence Onset Primary Coenzyme Q10 Deficiency With Rare CoQ8A Gene Mutation: A Case Report and Review of Literature

Neuroimaging in Primary Coenzyme-Q10-Deficiency Disorders

Mitochondrial Dysfunction due to Novel COQ8A Variation with Poor Response to CoQ10 Treatment: A Comprehensive Study and Review of Literatures

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