, of considerable interest
Classification of the hereditary ataxias and paraplegias, Lancet, vol.1, issue.8334, pp.1151-1156, 1983. ,
, , 2014.
Hereditary Ataxia Overview, 1998. ,
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group, Neurology, vol.46, issue.6, pp.1507-1521, 1996. ,
Hereditary spastic paraplegia: genetic heterogeneity and genotypephenotype correlation, Semin Neurol, vol.19, issue.3, pp.301-310, 1999. ,
The sequence of the human genome, Science, vol.291, pp.1304-51, 2001. ,
URL : https://hal.archives-ouvertes.fr/hal-00465088
Human genome: end of the beginning, Nature, vol.431, issue.7011, pp.915-921, 2004. ,
Advances in the hereditary spastic paraplegias, Exp Neurol, vol.184, pp.106-116, 2003. ,
Next-generation DNA sequencing methods, Annu Rev Genomics Hum, vol.13 ,
, , vol.9, pp.387-402, 2008.
Sequencing technologies -the next generation, Nat Rev Genet, vol.11, issue.1, pp.31-46, 2010. ,
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology, Hum Genet, pp.1536-1543, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01130628
PNPLA6 mutations cause BoucherNeuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum, Brain, vol.137, issue.1, pp.69-77, 2014. ,
, This study reports phenotypically different patients mutated in PNPLA6, without phenotype-genotype correlation
Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum, Nat Genet, vol.39, issue.3, pp.366-72, 2007. ,
URL : https://hal.archives-ouvertes.fr/hal-00281704
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease, Brain, vol.139, pp.73-85, 2016. ,
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis, Brain, vol.133, issue.2, pp.591-599, 2010. ,
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree, Eur J Hum Genet, vol.26, issue.5, pp.745-753, 2018. ,
Familial spastic paraplegia with amyotrophy of the hands, J Neurol Neurosurg Psychiatry, vol.29, issue.2, pp.135-179, 1966. ,
The Silver Syndrome Variant of Hereditary Spastic Paraplegia Maps to Chromosome 11q12-q14, with Evidence for Genetic Heterogeneity within This Subtype, The American Journal of Human Genetics, vol.69, issue.1, pp.209-224, 2001. ,
Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes, Hum Genet, vol.114, issue.1, pp.99-109, 2003. ,
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome, Nat Genet, vol.36, issue.3, pp.271-277, 2004. ,
, , p.88
, Berardinelli-Seip congenital lipodystrophy 2 mutation, Ann Neurol, vol.57, issue.3, pp.415-439, 2005.
BSCL2 mutations in two Dutch families with overlapping Silver syndrome-distal hereditary motor neuropathy, Neuromuscul Disord, vol.16, issue.2, pp.122-127, 2006. ,
A new seipinassociated neurodegenerative syndrome, J Med Genet, vol.50, issue.6, pp.401-410, 2013. ,
This study identified mutations in ALDH18A1 segregating in an autosomal or recessive inheritance of a spastic paraplegia and suggest the amino, Brain, vol.138, pp.2191-205, 2015. ,
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism, Brain, vol.139, p.3, 2016. ,
Molecular basis of argininemia. Identification of two discrete frame-shift deletions in the liver-type arginase gene, J Clin Invest, vol.86, issue.1, pp.347-50, 1990. ,
Molecular genetic study of human arginase deficiency, Am J Hum Genet, vol.50, issue.6, pp.1281-90, 1992. ,
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia, Am J Hum Genet, vol.92, issue.2, pp.238-282, 2013. ,
Genetic mapping to 10q23.3-q24.2, in a large Italian pedigree, of a new syndrome showing bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy, Am J Hum Genet, vol.64, issue.2, pp.586-93, 1999. ,
Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment, Journal of Human Genetics, vol.63, issue.9, p.1009, 2018. ,
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease, Cell, vol.93, issue.6, pp.973-83, 1998. ,
Motor protein mutations cause a new form of hereditary spastic paraplegia, Neurology, vol.82, pp.2007-2016, 2014. ,
Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia, Am J Hum Genet, vol.94, issue.2, pp.268-77, 2014. ,
Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity, Am J Hum Genet, vol.92, issue.2, pp.245-51, 2013. ,
Too many numbers and complexity: time to update the classifications of neurogenetic disorders, J Med Genet, vol.53, issue.10, pp.647-50, 2016. ,
Update on the genetics of spastic paraplegias, Curr Neurol Neurosci Rep, vol.19, p.18, 2019. ,
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias, Hum Mol Genet, vol.27, issue.14, pp.2517-2547, 2018. ,
Pharmacologic rescue of axon growth defects in a human iPSC model of hereditary spastic paraplegia SPG3A, Hum Mol Genet, vol.23, pp.5638-5648, 2014. ,
The hereditary spastic paraplegia gene, spastin, p.19 ,
, regulates microtubule stability to modulate synaptic structure and function, Curr Biol, vol.14, issue.13, pp.1135-1182, 2004.
Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine, J Clin Invest, vol.115, issue.11, pp.3026-3060, 2005. ,
Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons, Hum Mol Genet, vol.23, issue.10, pp.2527-2568, 2014. ,
Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia, J Clin Invest, vol.116, issue.1, pp.202-210, 2006. ,
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia, Am J Hum Genet, vol.91, issue.6, pp.1073-81, 2012. ,
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial, Brain, vol.140, issue.12, pp.3112-3139, 2017. ,
, A randomized controlled trial which gave promising results suggesting the possibility of implementing statins in treatment of SPG5 with the potential role of 27-OH cholesterol as a biomarker responding in the plasma but not in the CSF
This is a clinical trial that analyzed atorvastatin, chenodeoxycholic acid and resveratrol for treatment of SPG5 patients. The study suggested a combination of atorvastatin and chenodeoxycholic acid for treatment of SPG5 patients, Brain, vol.141, issue.1, p.20, 2018. ,
Inhibition of lysosome membrane recycling causes accumulation of gangliosides that contribute to neurodegeneration, Cell Rep, vol.23, pp.3813-3826, 2018. ,
, A study showing the first biomarker of therapeutic interest in spastic paraplegia 11
A systematic review that analyzed 27 articles discussing the different hereditary spastic paraplegia treatment options: pharmacological, surgical and physiotherapy, Front Neurol, vol.22, 2019. ,
The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview, A comprehensive review demonstrating the spectrum of neurological disorders in which lipid metabolism plays a role, vol.38, pp.19-40, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-01103255
Thirteen experts from multiple institutes created a scheme for objective case definition and classification of white matter disorders using a modified Delphi approach, Mol Genet Metab, vol.114, issue.4, pp.494-500, 2015. ,
CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56, Hum Mut, vol.39, pp.140-151, 2018. ,
URL : https://hal.archives-ouvertes.fr/hal-01796579
The role of ZFYVE27/protrudin in hereditary spastic paraplegia, Am J Hum Genet, vol.83, issue.1, pp.127-128, 2008. ,