Depienne C, Stevanin G, Brice A, Durr A (2007) Hereditary spastic paraplegias: an update. Curr Opin Neurol 20(6):674–680. https://doi.org/10.1097/WCO.0b013e3282f190ba

Article  PubMed  Google Scholar 

Fink JK (2013) Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126(3):307–328. https://doi.org/10.1007/s00401-013-1115-8

Article  PubMed  PubMed Central  Google Scholar 

Meyyazhagan A, Bhotla HK, Pappuswamy M, Orlacchio A (2022) The puzzle of hereditary spastic paraplegia: from epidemiology to treatment. Int J Mol Sci 11(14):7665. https://doi.org/10.3390/ijms23147665

Article  Google Scholar 

Panza E, Meyyazhagan A, Orlacchio A (2022) Hereditary spastic paraplegia: genetic heterogeneity and common pathways. Exp Neurol 357:114203. https://doi.org/10.1016/j.expneurol.2022.114203

Article  PubMed  Google Scholar 

Meyyazhagan A, Orlacchio A (2022) Hereditary spastic paraplegia: an update. Int J Mol Sci 23(3):1697. https://doi.org/10.3390/ijms23031697

Article  PubMed  PubMed Central  Google Scholar 

Fink JK (1997) Advances in the hereditary spastic paraplegias. Curr Opin Neurol 10(4):313–318. https://doi.org/10.1097/00019052-199708000-00006

Article  PubMed  Google Scholar 

Shribman S, Reid E, Crosby AH, Houlden H, Warner TT (2019) Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches. Lancet Neurol 18(12):1136–1146. https://doi.org/10.1016/S1474-4422(19)30235-2

Article  PubMed  Google Scholar 

Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17(5):405–424. https://doi.org/10.1038/gim.2015.30

Article  PubMed  PubMed Central  Google Scholar 

Schüle R, Holland-Letz T, Klimpe S et al (2006) The spastic paraplegia rating scale (SPRS) A reliable and valid measure of disease severity. Neurology 67(3):430–434. https://doi.org/10.1212/01.wnl.0000228242.53336.90

Article  PubMed  Google Scholar 

Wood E, Rosenbaum P (2000) The gross motor function classification system for cerebral palsy: a study of reliability and stability over time. Dev Med Child Neurol 42(5):292–296. https://doi.org/10.1017/s0012162200000529

Article  PubMed  Google Scholar 

Mahler EA, Johannsen J, Tsiakas K et al (2019) Exome sequencing in children. Dtsch Arztebl Int 116(12):197–204. https://doi.org/10.3238/arztebl.2019.0197

Article  PubMed  Google Scholar 

Salayev K, Rocca C, Kaiyrzhanov R et al (2022) AP4B1-associated hereditary spastic paraplegia: expansion of clinico-genetic phenotype and geographic range. Eur J Med Genet 65(11):104620. https://doi.org/10.1016/j.ejmg.2022.104620

Article  PubMed  Google Scholar 

Ebrahimi-Fakhari D, Teinert J, Behne R et al (2020) Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain 143(10):2929–2944. https://doi.org/10.1093/brain/awz307

Article  PubMed  PubMed Central  Google Scholar 

Kola S, Meka SSL, Syed TF et al (2022) Kufor rakeb syndrome with novel mutation and the role of deep brain stimulation. Mov Disord Clin Pract 9(7):1003–1007. https://doi.org/10.1002/mdc3.13518

Article  PubMed  PubMed Central  Google Scholar 

Akdal G, Koçoğlu K, Koçoğlu C, Bora E, Başak AN, Halmágyi GM (2021) Vestibulo-ocular reflex impairment in SPG7 hereditary spastic paraplegia. Clin Neurophysiol 132(1):77–79. https://doi.org/10.1016/j.clinph.2020.10.012

Article  PubMed  Google Scholar 

Stevanin G, Azzedine H, Denora P et al (2008) Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration. Brain 131(Pt 3):772–784. https://doi.org/10.1093/brain/awm293

Article  PubMed  Google Scholar 

Stromillo ML, Malandrini A, Dotti MT et al (2011) Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI. J Neurol 258(12):2240–2247. https://doi.org/10.1007/s00415-011-6106-x

Article  PubMed  Google Scholar 

Balicza P, Grosz Z, Gonzalez MA et al (2016) Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - an analysis of 58 probands. J Neurol Sci 364:116–121. https://doi.org/10.1016/j.jns.2016.03.018

Article  PubMed  Google Scholar 

Schüle R, Siddique T, Deng HX et al (2010) Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. J Lipid Res 51(4):819–823. https://doi.org/10.1194/jlr.M002543

Article  PubMed  PubMed Central  Google Scholar 

Cross HE, Mckusick VA (1967) The Troyer syndrome A recessive form of spastic paraplegia with distal muscle wasting. Arch Neurol 16(5):473–485. https://doi.org/10.1001/archneur.1967.00470230025003

Article  PubMed  Google Scholar 

German A, Jukic J, Laner A et al (2024) Novel homozygous FA2H variant causing the full spectrum of fatty acid Hydroxylase-Associated neurodegeneration (SPG35). Genes (Basel) 15(1):14. https://doi.org/10.3390/genes15010014

Article  Google Scholar 

Mari F, Berti B, Romano A et al (2018) Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review. Neurogenetics 19(2):123–130. https://doi.org/10.1007/s10048-018-0538-8

Article  PubMed  Google Scholar 

Dick KJ, Al-Mjeni R, Baskir W et al (2008) A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Neurology 71(4):248–252. https://doi.org/10.1212/01.wnl.0000319610.29522.8a

Article  PubMed  Google Scholar 

Abou Jamra R, Philippe O, Raas-Rothschild A et al (2011) Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet 88(6):788–795. https://doi.org/10.1016/j.ajhg.2011.04.019

Article  PubMed  PubMed Central  Google Scholar 

Ruan WC, Wang J, Yu YL et al (2020) Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report. BMC Med Genet 21(1):51. https://doi.org/10.1186/s12881-020-0988-3

Article  PubMed  PubMed Central  Google Scholar 

Estrada-Cuzcano A, Martin S, Chamova T et al (2017) Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain 140(2):287–305. https://doi.org/10.1093/brain/aww307

Article  PubMed  PubMed Central  Google Scholar 

Wilkinson PA, Crosby AH, Turner C et al (2004) A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic paraplegia. 127(5):973–980. https://doi.org/10.1093/brain/awh125

Casari G, De Fusco M, Ciarmatori S et al (1998) Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a Nuclear-Encoded mitochondrial metalloprotease. Cell 93(6):973–983. https://doi.org/10.1016/s0092-8674(00)81203-9

Article  PubMed  Google Scholar 

Mancuso G, Barth E, Crivello P, Rugarli EI (2012) Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the Endoplasmic reticulum. PLoS ONE 7(5):e36337. https://doi.org/10.1371/journal.pone.0036337

Article  PubMed  PubMed Central  Google Scholar 

Pozner T, Regensburger M, Engelhorn T, Winkler J, Winner B (2020) Janus-faced Spatacsin (SPG11): involvement in neurodevelopment and multisystem neurodegeneration. Brain 143(8):2369–2379. https://doi.org/10.1093/brain/awaa099

Article  PubMed  PubMed Central  Google Scholar 

Guo L, Jiang W, Lu G, Zhong M (2023) Clinical and genetic characteristics of CYP2U1-associated hereditary spastic paraplegia in three children from China. Res Square. https://doi.org/10.21203/rs.3.rs-3418885/v1

Article  Google Scholar 

Tesson C, Nawara M, Salih MAM et al (2012) Alteration of fatty-acid-metabolizing enzymes af