Background Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by
progressive lower‐extremity spasticity. Despite the identification of several HSP‐related …

Background COQ4 codes for a mitochondrial protein required for coenzyme Q10 (CoQ10)
biosynthesis. Autosomal recessive COQ4‐associated CoQ10 deficiency leads to an early …

Abstract Introduction Hereditary spastic paraplegias (HSPs) comprise a group of
neurodegenerative disorders characterized by progressive degeneration of upper motor …

Discussion Subjects with COQ8A pathogenic variants can show a wide clinical spectrum:
isolated ataxia, developmental delay, exercise intolerance, dystonia, epilepsy, myopathy …

Background Next‐generation sequencing‐based molecular assessment has benefited the
diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and …

Biallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a
genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical …

Aims The hereditary spastic paraplegias (HSP s) are a heterogeneous group of disorders
characterized by spasticity in the lower limbs. We provide an overview of HSP with an …

COQ7 encodes a hydroxylase responsible for the penultimate step of coenzyme Q10
(CoQ10) biosynthesis in mitochondria. CoQ10 is essential for multiple cellular functions …

We assessed the clinical outcome after coenzyme Q10 (CoQ10) therapy in 14 patients
presenting ataxia classified into two groups according to CoQ10 values in muscle (deficient …

COQ4 is a component of an enzyme complex involved in the biosynthesis of coenzyme Q 10
(CoQ 10), a molecule with primary importance in cell metabolism. Mutations in the COQ4 …