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Movement disorders in hereditary spastic paraplegias.
Pedroso JL, Vale TC, Freitas JL, Araújo FMM, Meira AT, Neto PB, França MC Junior, Tumas V, Teive HAG, Barsottini OGP. Pedroso JL, et al. Arq Neuropsiquiatr. 2023 Nov;81(11):1000-1007. doi: 10.1055/s-0043-1777005. Epub 2023 Nov 30. Arq Neuropsiquiatr. 2023. PMID: 38035585 Free PMC article. Review.
Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15, and SPG76. Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic …
Tremor is not a frequent finding in patients with SPG, but it is described in different types of SPG, including SPG7, SPG9, SPG11, SPG15 …
Naringenin and SMER28 target lysosomal reformation and rescue SPG11 and SPG15 hereditary spastic paraplegia phenotypes.
Vantaggiato C, Guarato G, Brivio F, Panzeri E, Speltoni B, Gumeni S, Orso G, Santorelli FM, Bassi MT. Vantaggiato C, et al. Pharmacol Res. 2025 Aug;218:107836. doi: 10.1016/j.phrs.2025.107836. Epub 2025 Jun 21. Pharmacol Res. 2025. PMID: 40550407 Free article.
SPG11 and SPG15 are two hereditary spastic paraplegia forms characterized by autophagosome accumulation, reduced free lysosomes and defects in autophagic lysosomal reformation (ALR). We demonstrated that attempts to rescue ALR and/or lysosome biogenesis are critical strate …
SPG11 and SPG15 are two hereditary spastic paraplegia forms characterized by autophagosome accumulation, reduced free lysosomes and d …
Structural basis for membrane remodeling by the AP5-SPG11-SPG15 complex.
Mai X, Wang Y, Wang X, Liu M, Teng F, Liu Z, Su MY, Stjepanovic G. Mai X, et al. Nat Struct Mol Biol. 2025 Aug;32(8):1334-1346. doi: 10.1038/s41594-025-01500-0. Epub 2025 Apr 2. Nat Struct Mol Biol. 2025. PMID: 40175557
SPG11-SPG15 can cooperate with the fifth adaptor protein complex (AP5) involved in membrane sorting of late endosomes. We employed cryogenic-electron microscopy and in silico predictions to investigate the structural assemblies of the SPG11-SPG15 and AP5-SPG11-SP …
SPG11-SPG15 can cooperate with the fifth adaptor protein complex (AP5) involved in membrane sorting of late endosomes. We employed cr …
Rag GTPases and phosphatidylinositol 3-phosphate mediate recruitment of the AP-5/SPG11/SPG15 complex.
Hirst J, Hesketh GG, Gingras AC, Robinson MS. Hirst J, et al. J Cell Biol. 2021 Feb 1;220(2):e202002075. doi: 10.1083/jcb.202002075. J Cell Biol. 2021. PMID: 33464297 Free PMC article.
PI3P binding is via the SPG15 FYVE domain, which, on its own, localizes to early endosomes. GDP-locked RagC promotes recruitment of AP-5/SPG11/SPG15, while GTP-locked RagA prevents its recruitment. Our results uncover an interplay between AP-5/SPG11/SPG15 and …
PI3P binding is via the SPG15 FYVE domain, which, on its own, localizes to early endosomes. GDP-locked RagC promotes recruitment of A …
Rescue of lysosomal function as therapeutic strategy for SPG15 hereditary spastic paraplegia.
Vantaggiato C, Orso G, Guarato G, Brivio F, Napoli B, Panzeri E, Masotti S, Santorelli FM, Lamprou M, Gumeni S, Clementi E, Bassi MT. Vantaggiato C, et al. Brain. 2023 Mar 1;146(3):1103-1120. doi: 10.1093/brain/awac308. Brain. 2023. PMID: 36029068 Free PMC article.
SPG15 is a hereditary spastic paraplegia subtype caused by mutations in Spastizin, a protein encoded by the ZFYVE26 gene. ...The six most effective compounds were tested in vivo in a new SPG15 loss of function Drosophila model that mimicked the reported SPG15 …
SPG15 is a hereditary spastic paraplegia subtype caused by mutations in Spastizin, a protein encoded by the ZFYVE26 gene. ...The six …
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L. Cao Y, et al. Mov Disord. 2024 Apr;39(4):651-662. doi: 10.1002/mds.29728. Epub 2024 Jan 31. Mov Disord. 2024. PMID: 38291924
RESULTS: We made a genetic diagnosis in 60% (162/270) of patients, of whom 48.9% (132/270) had 24 various subtypes due to point mutations (SPG4/SPG11/SPG35/SPG7/SPG10/SPG5/SPG3A/SPG2/SPG76/SPG30/SPG6/SPG9A/SPG12/SPG15/SPG17/SPG18/SPG26/SPG49/SPG55/SPG56/SPG57/SPG62/SPG78/S …
RESULTS: We made a genetic diagnosis in 60% (162/270) of patients, of whom 48.9% (132/270) had 24 various subtypes due to point mutations (S …
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis.
Vantaggiato C, Panzeri E, Castelli M, Citterio A, Arnoldi A, Santorelli FM, Liguori R, Scarlato M, Musumeci O, Toscano A, Clementi E, Bassi MT. Vantaggiato C, et al. Autophagy. 2019 Jan;15(1):34-57. doi: 10.1080/15548627.2018.1507438. Epub 2018 Sep 13. Autophagy. 2019. PMID: 30081747 Free PMC article.
ZFYVE26/Spastizin and SPG11/Spatacsin encode 2 large proteins that are mutated in hereditary autosomal-recessive spastic paraplegia/paraparesis (HSP) type 15 (AR-SPG15) and type 11 (AR-SPG11), respectively. We previously have reported that AR-SPG15-related ZFYVE26 m …
ZFYVE26/Spastizin and SPG11/Spatacsin encode 2 large proteins that are mutated in hereditary autosomal-recessive spastic paraplegia/parapare …
Investigating ZFYVE26 mutations in a Taiwanese cohort with hereditary spastic paraplegia.
Hsu SL, Lu YJ, Tsai YS, Chao HC, Fuh JL, Liao YC, Lee YC. Hsu SL, et al. J Formos Med Assoc. 2022 Jan;121(1 Pt 1):126-133. doi: 10.1016/j.jfma.2021.02.005. Epub 2021 Feb 24. J Formos Med Assoc. 2022. PMID: 33637369 Free article.
Brain MRI showed thin corpus callosum and the "ears of lynx" sign. CONCLUSION: SPG15 accounts for approximately 0.5% (1/195) of the Taiwanese HSP cohort. This study identified the first Taiwanese SPG15 case and delineated the clinical, genetic, neuropsychological, a …
Brain MRI showed thin corpus callosum and the "ears of lynx" sign. CONCLUSION: SPG15 accounts for approximately 0.5% (1/195) of the T …
The clinical and molecular spectrum of ZFYVE26-associated hereditary spastic paraplegia: SPG15.
Saffari A, Kellner M, Jordan C, Rosengarten H, Mo A, Zhang B, Strelko O, Neuser S, Davis MY, Yoshikura N, Futamura N, Takeuchi T, Nabatame S, Ishiura H, Tsuji S, Aldeen HS, Cali E, Rocca C, Houlden H, Efthymiou S, Assmann B, Yoon G, Trombetta BA, Kivisäkk P, Eichler F, Nan H, Takiyama Y, Tessa A, Santorelli FM, Sahin M, Blackstone C, Yang E, Schüle R, Ebrahimi-Fakhari D. Saffari A, et al. Brain. 2023 May 2;146(5):2003-2015. doi: 10.1093/brain/awac391. Brain. 2023. PMID: 36315648 Free PMC article.
ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressive spasticity and a variety of other neurological symptoms. ...
ZFYVE26-associated hereditary spastic paraplegia (HSP-ZFYVE26, SPG15) is a rare, early-onset complex HSP, characterized by progressiv …
Impaired mitochondrial dynamics underlie axonal defects in hereditary spastic paraplegias.
Denton K, Mou Y, Xu CC, Shah D, Chang J, Blackstone C, Li XJ. Denton K, et al. Hum Mol Genet. 2018 Jul 15;27(14):2517-2530. doi: 10.1093/hmg/ddy156. Hum Mol Genet. 2018. PMID: 29726929 Free PMC article.
Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of HSP, SPG15 and SPG48, which are caused by mutations in the ZFYVE26 and AP5Z1 genes encoding proteins in the same complex, the spastizin and AP5Z1 proteins, re …
Here, we have generated induced pluripotent stem cells (iPSCs) from patients with two autosomal recessive forms of HSP, SPG15 and SPG …
34 results