Tesson C, Koht J, Stevanin G. Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosology. Hum Genet. 2015 Jun. 134 (6):511-38. [Medline]. [Full Text].
Faber I, Pereira ER, Martinez ARM, Franca M Jr, Teive HAG. Hereditary spastic paraplegia from 1880 to 2017: an historical review. Arq Neuropsiquiatr. 2017 Nov. 75 (11):813-8. [Medline]. [Full Text].
Sawhney IM, Bansal SK, Upadhyay PK, et al. Evoked potentials in hereditary spastic paraplegia. Ital J Neurol Sci. 1993 Sep. 14(6):425-8. [Medline].
Reid E. Pure hereditary spastic paraplegia. J Med Genet. 1997 Jun. 34(6):499-503. [Medline]. [Full Text].
Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008 Dec. 7(12):1127-38. [Medline].
Schule R, Wiethoff S, Martus P, et al. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients. Ann Neurol. 2016 Apr. 79 (4):646-58. [Medline].
Tarrade A, Fassier C, Courageot S, Charvin D, Vitte J, Peris L. A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition. Hum Mol Genet. 2006 Dec 15. 15(24):3544-58. [Medline].
Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum Mol Genet. 2006 Jan 15. 15(2):307-18. [Medline].
Nolden M, Ehses S, Koppen M, Bernacchia A, Rugarli EI, Langer T. The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria. Cell. 2005 Oct 21. 123(2):277-89. [Medline].
Depienne C, Stevanin G, Brice A, et al. Hereditary spastic paraplegias: an update. Curr Opin Neurol. 2007 Dec. 20(6):674-80. [Medline].
Agosta F, Scarlato M, Spinelli EG, et al. Hereditary Spastic Paraplegia: Beyond Clinical Phenotypes toward a Unified Pattern of Central Nervous System Damage. Radiology. 2015 Jul. 276 (1):207-18. [Medline].
Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003 Nov. 184 Suppl 1:S106-10. [Medline].
Tallaksen CM, Durr A, Brice A. Recent advances in hereditary spastic paraplegia. Curr Opin Neurol. 2001 Aug. 14(4):457-63. [Medline].
Züchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opin Pharmacother. 2007 Jul. 8(10):1433-9. [Medline].
Paisan-Ruiz C, Dogu O, Yilmaz A, et al. SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia. Neurology. 2008 Apr 15. 70(16 Pt 2):1384-9. [Medline].
Blackstone C, O'Kane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci. 2011 Jan. 12(1):31-42. [Medline].
Koh K, Ishiura H, Tsuji S, Takiyama Y. JASPAC: Japan Spastic Paraplegia Research Consortium. Brain Sci. 2018 Aug 13. 8 (8):[Medline]. [Full Text].
Ebrahimi-Fakhari D, Behne R, Davies AK, et al. AP-4-Associated Hereditary Spastic Paraplegia. 2018 Dec 13. [Medline]. [Full Text].
Bis-Brewer DM, Zuchner S. Perspectives on the Genomics of HSP Beyond Mendelian Inheritance. Front Neurol. 2018. 9:958. [Medline]. [Full Text].
Hazan J, Fonknechten N, Mavel D, et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat Genet. 1999 Nov. 23(3):296-303. [Medline].
Fink JK, Rainier S. Hereditary spastic paraplegia: spastin phenotype and function. Arch Neurol. 2004 Jun. 61(6):830-3. [Medline].
Orlacchio A, Patrono C, Gaudiello F, et al. Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4. Neurology. 2008 May 20. 70(21):1959-66. [Medline].
Tzoulis C, Denora PS, Santorelli FM, et al. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol. 2008 Jun 23. [Medline].
Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 Mar. 39(3):366-72. [Medline].
Chrestian N, Dupre N, Gan-Or Z, et al. Clinical and genetic study of hereditary spastic paraplegia in Canada. Neurol Genet. 2017 Feb. 3 (1):e122. [Medline]. [Full Text].
Faber I, Martinez ARM, de Rezende TJR, et al. SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage. Neuroimage Clin. 2018. 19:848-57. [Medline]. [Full Text].
Steinmüller R, Lantigua-Cruz A, Garcia-Garcia R, Kostrzewa M, Steinberger D, Müller U. Evidence of a third locus in X-linked recessive spastic paraplegia. Hum Genet. 1997 Aug. 100(2):287-9. [Medline].
Fink JK, Heiman-Patterson T, Bird T, et al. Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working Group. Neurology. 1996 Jun. 46(6):1507-14. [Medline].
Hazan J, Lamy C, Melki J, et al. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993 Oct. 5(2):163-7. [Medline].
Kanavin OJ, Fjermestad KW. Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis. Orphanet J Rare Dis. 2018 Apr 16. 13 (1):58. [Medline]. [Full Text].
Appleton RE, Farrell K, Dunn HG. Pure' and 'complicated' forms of hereditary spastic paraplegia presenting in childhood. Dev Med Child Neurol. 1991 Apr. 33(4):304-12. [Medline].
Schlipf N, Schüle R, Klimpe S, Karle K, Synofzik M, Schicks J, et al. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet. 2011 Aug. 80(2):148-60. [Medline].
Schady W, Smith CM. Sensory neuropathy in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 1994 Jun. 57(6):693-8. [Medline]. [Full Text].
Pascual B, de Bot ST, Daniels MR, et al. "Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia. AJNR Am J Neuroradiol. 2019 Jan. 40 (1):199-203. [Medline].
Schady W, Dick JP, Sheard A, Crampton S. Central motor conduction studies in hereditary spastic paraplegia. J Neurol Neurosurg Psychiatry. 1991 Sep. 54(9):775-9. [Medline]. [Full Text].
Ardolino G, Bocci T, Nigro M, et al. Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study. J Spinal Cord Med. 2018 Dec 3. 1-8. [Medline].