Coenzyme Q10 deficiency; A treatable autosomal recessive cerebellar ataxias

Primary Coenzyme Q deficiencies: A literature review and online platform of clinical features to uncover genotype-phenotype correlations

“…The liver is affected in a few patients harbouring mutant versions of COQ2 (liver failure in 3/30, 10% [152,213] and cholestatic liver in 1/30, 3% [151]), COQ9 (reduced haematopoiesis in the liver in 1/7, 14% [157]), COQ8A (hepatosteatosis in 1/77, 1.3% [217]) and COQ8B…”

“…In humans there are five paralogs belonging to the aarF domain-containing protein kinase or 11D) [117,122,138,175,176,[180][181][182][183][184]186,187,215,216,231]. In the case of an adolescence-onset of the disease, the first symptoms were mainly Tr (5/9, 56%), ataxia (2/9, 22%), IH (2/9, 22%), myoclonus (1/9, 11%), GI (1/9, 11%) or Dy (1/9, 11%) (Figure 11E) [117,138,175,176,185,186,216,217]. Some patients presented when they were adults with GI (2/6, 33%), gait ataxia (2/6, 33%), Dy (1/6, 17%) or Sz…”