| 1 | GBA2, SPG46
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| SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China.
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| Yang YJ, Zhou ZF, Liao XX, Luo YY, Zhan ZX, Huang MF, Zhou L, Tang BS, Shen L, Du J.
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| J Neurol 263(10):2136-8. doi: 10.1007/s00415-016-8256-3. Epub 2016 Aug 23. No abstract available.
2016
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| 2 | GBA2, SPG46
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| Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
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| Sultana S, Reichbauer J, Schüle R, Mochel F, Synofzik M, van der Spoel AC.
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| Biochem Biophys Res Commun 465(1):35-40. doi: 10.1016/j.bbrc.2015.07.112. Epub 2015 Jul 26.
2015
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| 3 | GBA2, SPG46
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| Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia.
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| Martin E, Schüle R, Smets K, Rastetter A, Boukhris A, Loureiro JL, Gonzalez MA, Mundwiller E, Deconinck T, Wessner M, Jornea L, Oteyza AC, Durr A, Martin JJ, Schöls L, Mhiri C, Lamari F, Züchner S, De Jonghe P, Kabashi E, Brice A, Stevanin G.
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| Am J Hum Genet 92(2):238-244. doi: 10.1016/j.ajhg.2012.11.021. Epub 2013 Jan 17.
2013
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| 4 | GBA2, SPG46
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| Mutations in GBA2 Cause Autosomal-Recessive Cerebellar Ataxia with Spasticity.
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| Hammer MB, Eleuch-Fayache G, Schottlaender LV, Nehdi H, Gibbs JR, Arepalli SK, Chong SB, Hernandez DG, Sailer A, Liu G, Mistry PK, Cai H, Shrader G, Sassi C, Bouhlal Y, Houlden H, Hentati F, Amouri R, Singleton AB.
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| Am J Hum Genet 92(2):245-51. doi: 10.1016/j.ajhg.2012.12.012. Epub 2013 Jan 17.
2013
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| 5 | 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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| 6 | SPG46
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| A new locus (SPG46) maps to 9p21.2-q21.12 in a Tunisian family with a complicated autosomal recessive hereditary spastic paraplegia with mental impairment and thin corpus callosum.
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| Boukhris A, Feki I, Elleuch N, Miladi MI, Boland-Augé A, Truchetto J, Mundwiller E, Jezequel N, Zelenika D, Mhiri C, Brice A, Stevanin G.
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| Neurogenetics. 11(4):441-8. 2010
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