Hereditary spastic paraplegia

Definition:

Hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive distal limb weakness and lower extremity spasticity.

References:

[1]. Alexander Lossos, et al. Fe/S protein assembly gene IBA57 mutation causes hereditary spastic paraplegia. Neurology. 2015 Feb 17;84(7):659-67. [Content Brief]

[2]. Alexander Lossos, et al. Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder. Brain. 2015 Sep;138(Pt 9):2521-36. [Content Brief]

[3]. Amir Boukhris, et al. Alteration of ganglioside biosynthesis responsible for complex hereditary spastic paraplegia. Am J Hum Genet. 2013 Jul 11;93(1):118-23. [Content Brief]

[4]. Amr Al-Saif, et al. Loss of ERLIN2 function leads to juvenile primary lateral sclerosis. Ann Neurol. 2012 Oct;72(4):510-6. [Content Brief]

[5]. Annemieke J M H Verkerk, et al. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am J Hum Genet. 2009 Jul;85(1):40-52. [Content Brief]

[6]. Ashraf U Mannan, et al. ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia. Am J Hum Genet. 2006 Aug;79(2):351-7. [Content Brief]

[7]. Ashraf Yahia, et al. Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia. Front Neurol. 2021 Aug 20;12:720201. [Content Brief]

[8]. Carlo Rinaldi, et al. Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia. JAMA Neurol. 2015 May;72(5):561-70. [Content Brief]

[9]. Christelle Tesson, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet. 2012 Dec 7;91(6):1051-64. [Content Brief]

[10]. Christian Beetz, et al. Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure. Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5091-6. [Content Brief]

[11]. Christian Windpassinger, et al. Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet. 2004 Mar;36(3):271-6. [Content Brief]

[12]. Claudia Schob, et al. Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia. Ann Neurol. 2021 Nov;90(5):738-750. [Content Brief]

[13]. Danit Oz-Levi, et al. Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis. Am J Hum Genet. 2012 Dec 7;91(6):1065-72. [Content Brief]

[14]. Edgard Verdura, et al. Biallelic PI4KA variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy. Brain. 2021 Oct 22;144(9):2659-2669. [Content Brief]

[15]. Eleanna Kara, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain. 2016 Jul;139(Pt 7):1904-18. [Content Brief]

[16]. Elodie Martin, et al. Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia. Am J Hum Genet. 2013 Feb 7;92(2):238-44. [Content Brief]

[17]. Evan Reid, et al. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet. 2002 Nov;71(5):1189-94. [Content Brief]

[18]. Frédéric M Vaz, et al. Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia. Brain. 2019 Nov 1;142(11):3382-3397. [Content Brief]

[19]. G Casari, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 1998 Jun 12;93(6):973-83. [Content Brief]

[20]. Gaia Novarino, et al. Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders. Science. 2014 Jan 31;343(6170):506-511. [Content Brief]

[21]. Giovanni Stevanin, et al. Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum. Nat Genet. 2007 Mar;39(3):366-72. [Content Brief]

[22]. Gladys Montenegro, et al. Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12. J Clin Invest. 2012 Feb;122(2):538-44. [Content Brief]

[23]. Guida Landouré, et al. Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12. Hum Mutat. 2013 Oct;34(10):1357-60. [Content Brief]

[24]. Haruo Shimazaki, et al. A homozygous mutation of C12orf65 causes spastic paraplegia with optic atrophy and neuropathy (SPG55). J Med Genet. 2012 Dec;49(12):777-84. [Content Brief]

[25]. Heema Patel, et al. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat Genet. 2002 Aug;31(4):347-8. [Content Brief]

[26]. J Hazan, 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. [Content Brief]

[27]. Janneke H M Schuurs-Hoeijmakers, et al. Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia. Am J Hum Genet. 2012 Dec 7;91(6):1073-81. [Content Brief]

[28]. Jennifer L Orthmann-Murphy, et al. Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations. Brain. 2009 Feb;132(Pt 2):426-38. [Content Brief]

[29]. Jens Jacob Hansen, et al. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am J Hum Genet. 2002 May;70(5):1328-32. [Content Brief]

[30]. John K Fink, et al. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003 Nov;184 Suppl 1:S106-10. [Content Brief]

[31]. John K Fink, et al. Hereditary spastic paraplegia. Curr Neurol Neurosci Rep. 2006 Jan;6(1):65-76. [Content Brief]

[32]. John Y W Lee, et al. Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23. Am J Hum Genet. 2017 Feb 2;100(2):364-370. [Content Brief]

[33]. Kaya Bilguvar, et al. Recessive loss of function of the neuronal ubiquitin hydrolase UCHL1 leads to early-onset progressive neurodegeneration. Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3489-94. [Content Brief]

[34]. Luis Carlos Tábara, et al. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia. Brain. 2022 Sep 14;145(9):3095-3107. [Content Brief]

[35]. M Jouet, et al. X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene. Nat Genet. 1994 Jul;7(3):402-7. [Content Brief]

[36]. Maria K Tsaousidou, et al. Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet. 2008 Feb;82(2):510-5. [Content Brief]

[37]. Marie Coutelier, et al. Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia. Brain. 2015 Aug;138(Pt 8):2191-205. [Content Brief]

[38]. Matias Wagner, et al. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun. 2019 Oct 21;10(1):4790. [Content Brief]

[39]. Michael A Simpson, et al. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet. 2003 Nov;73(5):1147-56. [Content Brief]

[40]. Mikołaj Słabicki, et al. A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia. PLoS Biol. 2010 Jun 29;8(6):e1000408. [Content Brief]

[41]. Mohammad Ali Farazi Fard, et al. Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia. Am J Hum Genet. 2019 Apr 4;104(4):767-773. [Content Brief]

[42]. Mustafa Y Ahmed, et al. A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis. Brain. 2017 Mar 1;140(3):547-554. [Content Brief]

[43]. Naima Bouslam, et al. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol. 2005 Apr;57(4):567-71. [Content Brief]

[44]. P Saugier-Veber, et al. X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet. 1994 Mar;6(3):257-62. [Content Brief]

[45]. Paul N Valdmanis, et al. Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia. Am J Hum Genet. 2007 Jan;80(1):152-61. [Content Brief]

[46]. Pengfei Lin, et al. A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42). Am J Hum Genet. 2008 Dec;83(6):752-9. [Content Brief]

[47]. Ralf A Husain, et al. Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia. Am J Hum Genet. 2020 Aug 6;107(2):364-373. [Content Brief]

[48]. Rami Abou Jamra, et al. Adaptor protein complex 4 deficiency causes severe autosomal-recessive intellectual disability, progressive spastic paraplegia, shy character, and short stature. Am J Hum Genet. 2011 Jun 10;88(6):788-795. [Content Brief]

[49]. Sara Salinas, et al. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008 Dec;7(12):1127-38. [Content Brief]

[50]. Shirley Rainier, et al. Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet. 2008 Mar;82(3):780-5. [Content Brief]

[51]. Shirley Rainier, et al. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am J Hum Genet. 2003 Oct;73(4):967-71. [Content Brief]

[52]. Simon Edvardson, et al. Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia. Am J Hum Genet. 2008 Nov;83(5):643-8. [Content Brief]

[53]. Stephan Züchner, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365-9. [Content Brief]

[54]. Sylvain Hanein, et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002. [Content Brief]

[55]. Typhaine Esteves, et al. Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia. Am J Hum Genet. 2014 Feb 6;94(2):268-77. [Content Brief]

[56]. X Zhao, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet. 2001 Nov;29(3):326-31. [Content Brief]

[57]. Yaniv Erlich, et al. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res. 2011 May;21(5):658-64. [Content Brief]

[58]. Yifat Zivony-Elboum, et al. A founder mutation in Vps37A causes autosomal recessive complex hereditary spastic paraparesis. J Med Genet. 2012 Jul;49(7):462-72. [Content Brief]

[59]. Ying Yang, et al. A Newly Identified Missense Mutation in FARS2 Causes Autosomal-Recessive Spastic Paraplegia. Hum Mutat. 2016 Feb;37(2):165-9. [Content Brief]

[60]. Ziv Gan-Or, et al. Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia. Am J Hum Genet. 2016 May 5;98(5):1038-1046. [Content Brief]

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