Coutinho P, Ruano L, Loureiro JL et al (2013) Hereditary ataxia and spastic paraplegia in Portugal: a populationbased prevalence study. JAMA Neurol 70:746–755

Article  PubMed  Google Scholar 

Shribman S, Reid E, Crosby AH et al (2019) Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol 18:1136–1146

Article  CAS  PubMed  Google Scholar 

Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 321:1151–1155

Article  Google Scholar 

Novarino G, Fenstermaker AG, Zaki MS et al (2014) Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science 343:506–511

Article  CAS  PubMed  PubMed Central  Google Scholar 

Quinzii CM, Emmanuele V, Hirano M (2014) Clinical presentations of coenzyme q10 deficiency syndrome. Mol Syndromol 5:141–146

Article  CAS  PubMed  PubMed Central  Google Scholar 

Marbois B, Gin P, Gulmezian M, Clarke CF (2009) The yeast COQ4 polypeptide organizes a mitochondrial protein complex essential for coenzyme Q biosynthesis. Biochim Biophys Acta 1791:69–75

Article  CAS  PubMed  Google Scholar 

Chung WK, Martin K, Jalas C et al (2015) Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. J Med Genet 52:627–635

Article  CAS  PubMed  Google Scholar 

Xie J, Jiang J, Guo Q (2022) Primary Coenzyme Q10 Deficiency-7 and pathogenic COQ4 variants: clinical presentation, biochemical analyses, and treatment. Front Genet 12:776807

Article  PubMed  PubMed Central  Google Scholar 

Brea-Calvo G, Haack TB, Karall D et al (2015) COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency. Am J Hum Genet 96:309–317

Article  CAS  PubMed  PubMed Central  Google Scholar 

Cordts I, Semmler L, Prasuhn J et al (2022) Bi-allelic COQ4 variants cause adult-onset Ataxia-spasticity spectrum disease. Mov Disord 37:2147–2153

Article  CAS  PubMed  Google Scholar 

Wei Q, Yu H, Wang PS et al (2024) Biallelic variants in the COQ4 gene caused hereditary spastic paraplegia predominant phenotype. CNS Neurosci Ther 30:e14529

Article  CAS  PubMed  Google Scholar 

Wang Y, Hekimi S (2022) The efficacy of coenzyme Q10 treatment in alleviating the symptoms of primary coenzyme Q10 deficiency: a sys tematic review. J Cell Mol Med 26:4635–4644

Article  CAS  PubMed  PubMed Central  Google Scholar 

Page MJ, Moher D, Bossuyt PM et al (2021) PRISMA 2020 explanation and elaboration: updated guidance and exemplars for reporting systematic reviews. BMJ 372:n160

Article  PubMed  PubMed Central  Google Scholar 

Higgins JPT, Thomas J, Chandler J et al (eds) (2019) Cochrane Handbook for Systematic Reviews of Interventions, 2nd edn. Wiley, (UK), Chichester

Google Scholar 

Lin X, Jiang JY, Hong DJ et al (2024) Biallelic COQ4 variants in Hereditary Spastic Paraplegia: clinical and molecular characterization. Mov Disord 39:152–163

Article  CAS  PubMed  Google Scholar 

Pérez-Brangulí F, Mishra HK, Prots I et al (2014) Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia. Hum Mol Genet 23:4859–4874

Article  PubMed  PubMed Central  Google Scholar 

Schüle R, Wiethoff S, Martus P et al (2016) Hereditary spastic paraplegia: clinicogenetic lessons from 608 patients. Ann Neurol 79:646–658

Article  PubMed  Google Scholar 

van Gassen KL, van der Heijden CD et al (2012) Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 135:2994–3004

Article  PubMed  Google Scholar 

Hewamadduma CA, Hoggard N, O’Malley R et al (2018) Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations. Neurol Genet 4:e279

Article  CAS  PubMed  PubMed Central  Google Scholar 

Doleckova K, Roth J, Stellmachova J et al (2022) SPG11: clinical and genetic features of seven Czech patients and literature review. Neurol Res 44:379–389

Article  PubMed  Google Scholar 

Casarin A, Jimenez-Ortega JC, Trevisson E et al (2008) Functional characterization of human COQ4, a gene required for Coenzyme Q10 biosynthesis. Biochem Biophys Res Commun 372:35–39

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chrestian N, Dupré N, Gan-Or Z et al (2016) Clinical and genetic study of hereditary spastic paraplegia in Canada. Neurol Genet 3:e122

Article  PubMed  PubMed Central  Google Scholar 

Shalata A, Edery M, Habib C et al (2019) Primary Coenzyme Q deficiency due to Novel ADCK3 variants, studies in fibroblasts and review of literature. Neurochem Res 44:2372–2384

Article  CAS  PubMed  Google Scholar 

Sadr Z, Zare-Abdollahi D, Rohani M, Alavi A (2023) A founder mutation in COQ7, p.(Leu111Pro), causes pure hereditary spastic paraplegia (HSP) in the Iranian population. Neurol Sci 44:2599–2602

Article  PubMed  Google Scholar 

Qiu Y, Xiong Y, Wang L et al (2024) Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia. Ann Clin Transl Neurol 11:1067–1074

Article  CAS  PubMed  PubMed Central  Google Scholar 

Echtay KS, Winkler E, Klingenberg M (2000) Coenzyme Q is an obligatory cofactor for uncoupling protein function. Nature 408:609–613

Article  CAS  PubMed  Google Scholar 

Blackstone C (2012) Cellular pathways of hereditary spastic paraplegia. Annu Rev Neurosci 35:25–47

Article  CAS  PubMed  PubMed Central  Google Scholar 

Chen Z, Chai E, Mou Y et al (2022) Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons. Brain 145:4016–4031

Article  PubMed  PubMed Central  Google Scholar 

Mou Y, Li XJ (2019) Rescue axonal defects by targeting mitochondrial dynamics in hereditary spastic paraplegias. Neural Regen Res 14:574–577

Article  CAS  PubMed  PubMed Central  Google Scholar