| 1 | KIF5A, SPG10
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| Hereditary Spastic Paraplegia with Axonal Sensorimotor Polyneuropathy in a Korean Family Caused by Pathogenic Variant of KIF5A (c.611G>A).
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| Lee H, La Y, Na HK, Kim H, Shin S, Choi YC.
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| J Clin Neurol. Apr;16(2):347-348. doi: 10.3988/jcn.2020.16.2.347. 2020
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| 2 | KIF5A, SPG10
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| Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality.
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| Collongues N, Depienne C, Boehm N, Echaniz-Laguna A, Samama B, Dürr A, Stevanin G, Leguern E, Brice A, Labauge P, de Seze J.
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| Eur J Neurol. 20(2):398-401. 2013
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| 3 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56
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| Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.
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| Fink JK.
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| Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013
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| 4 | KIF5A, SPG10
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| Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2.
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| Crimella C, Baschirotto C, Arnoldi A, Tonelli A, Tenderini E, Airoldi G, Martinuzzi A, Trabacca A, Losito L, Scarlato M, Benedetti S, Scarpini E, Spinicci G, Bresolin N, Bassi MT.
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| Clin Genet 82(2):157-64. doi: 10.1111/j.1399-0004.2011.01717.x. Epub 2011 Jun 21.
2012
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| 5 | KIF5A, SPG10
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| A novel mutation in KIF5A gene causing hereditary spastic paraplegia with axonal neuropathy.
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| Musumeci O, Bassi MT, Mazzeo A, Grandis M, Crimella C, Martinuzzi A, Toscano A.
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| Neurol Sci 32(4):665-8. Epub 2010 Nov 24.
2011
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| 6 | KIF5A, SPG10
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| Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10.
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| Goizet C, Boukhris A, Mundwiller E, Tallaksen C, Forlani S, Toutain A, Carriere N, Paquis V, Depienne C, Durr A, Stevanin G, Brice A.
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| Hum Mutat 30(2):E376-85.
2009
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| 7 | KIF5A, SPG10
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| Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.
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| Ebbing B, Mann K, Starosta A, Jaud J, Schšls L, SchŸle R, Woehlke G.
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| Hum Mol Genet 17(9):1245-52. Epub 2008 Jan 18. 2008
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| 8 | ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
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| A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
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| Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
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| Chin Med J (Engl) 121(5):430-4. 2008
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| 9 | KIF5A, SPG10
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| SPG10 is a rare cause of spastic paraplegia in European families.
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| Schüle R, Kremer BP, Kassubek J, Auer-Grumbach M, Kostic V, Klopstock T, Klimpe S, Otto S, Boesch S, van de Warrenburg BP, Schöls L.
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| J Neurol Neurosurg Psychiatry 79(5):584-7. Epub 2008 Feb 1.PMID: 18245137 2008
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| 10 | KIF5A, SPG10
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| A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
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| Tessa A, Silvestri G, de Leva MF, Modoni A, Denora PS, Masciullo M, Dotti MT, Casali C, Melone MA, Federico A, Filla A, Santorelli FM.
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| J Neurol 255(7):1090-2. Epub 2008 Jun 2. No abstract available.
2008
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| 11 | KIF5A, SPG10
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| A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.
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| Lo Giudice M, Neri M, Falco M, Sturnio M, Calzolari E, Di Benedetto D, Fichera M.
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| Arch Neurol 63(2):284-7. 2006
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| 12 | KIF5A, SPG10
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| A Kinesin Heavy Chain (KIF5A) Mutation in Hereditary Spastic Paraplegia (SPG10).
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| Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA.
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| Am J Hum Genet 71(5):1189-94. 2002
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| 13 | SPG10
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| The spastic paraplegia SPG10 locus : narrowing of critical region and exclusion of sodium channel gene SCN8A as a candidate.
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| Reid E, Escayg A, Dearlove AM, Lee DD, Meisler MH, Rubinsztein DC.
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| J Med Genet 38 : 65-67. 2001
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| 14 | SPG10
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| A new locus for autosomal dominant Pure hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
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| Reid E, et al.
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| Am J Hum Genet 65(3):757-63 1999
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