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A clinical and genetic study of SPG31 in Japan.
Hata T, Nan H, Koh K, Ishiura H, Tsuji S, Takiyama Y. Hata T, et al. J Hum Genet. 2022 Jul;67(7):421-425. doi: 10.1038/s10038-022-01021-4. Epub 2022 Feb 7. J Hum Genet. 2022. PMID: 35132160
SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic variants in the receptor expression-enhancing protein 1 (REEP1) gene. ...This is the first report of clinical and genetic findings of SPG31 in Japan, which may lead to further studies …
SPG31 is an autosomal dominant hereditary spastic paraplegia caused by pathogenic variants in the receptor expression-enhancing prote …
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.
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and neuropathy). SPG4, SPG6, SPG10, SPG27, SPG30 and SPG31 may rarely present with ataxia with cerebellar atrophy. And autosomal recessive …
Myoclonus is rarely described in SPG, affecting patients with SPG4, SPG7, SPG35, SPG48, and SPOAN (spastic paraplegia, optic atrophy, and ne …
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F, Du J. Xing F, et al. Neurol Sci. 2022 Aug;43(8):4989-4996. doi: 10.1007/s10072-022-05921-3. Epub 2022 Mar 28. Neurol Sci. 2022. PMID: 35348942
RESULTS: Among the 10 patients, one SPG7 patient, one SPG11 patient, and one pure SPG31 patient were detected. Two variants (deletion of exon 3-9 of SPG7 gene and the heterozygous mutation c.1861C > T/p.Q621* of SPG11 gene) were novel and three (c.1150_1150 + 1insCTAC/p …
RESULTS: Among the 10 patients, one SPG7 patient, one SPG11 patient, and one pure SPG31 patient were detected. Two variants (deletion …
Generation of a human induced pluripotent stem cell line (FSMi001-A) from fibroblasts of a patient carrying heterozygous mutation in the REEP1 gene.
Baggiani M, Santorelli FM, Mero S, Privitera F, Damiani D, Tessa A. Baggiani M, et al. Stem Cell Res. 2024 Sep;79:103472. doi: 10.1016/j.scr.2024.103472. Epub 2024 Jun 11. Stem Cell Res. 2024. PMID: 38889632 Free PMC article.
Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive degeneration of the corticospinal tract. Among these HSPs, SPG31 is due to autosomal dominant mutations in the receptor expression-enhanc …
Hereditary spastic paraplegias (HSPs) a group of rare, clinically, and genetically heterogeneous disorders characterized by progressive dege …
Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing.
Korneck M, Leonhardt A, Schöls L, Hauser S. Korneck M, et al. Stem Cell Res. 2024 Jun;77:103378. doi: 10.1016/j.scr.2024.103378. Epub 2024 Mar 5. Stem Cell Res. 2024. PMID: 38479332 Free article.
REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in REEP1 cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). Here we show the generation of a homozygous …
REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations …
Frequently observed polyneuropathy expands phenotypic spectrum of apparently pure autosomal dominant hereditary spastic paraplegias.
Stępniak I, Rakowicz M, Lipczyńska-Łojkowska W, Sobańska A, Elert-Dobkowska E, Krysa W, Rajkiewicz M, Wasielewska-Hobot A, Rudzińska M, Pilch J, Makowicz G, Zaremba J, Sułek A. Stępniak I, et al. Neurol Neurochir Pol. 2025;59(3):283-291. doi: 10.5603/pjnns.101154. Epub 2025 May 26. Neurol Neurochir Pol. 2025. PMID: 40417946 Free article.
Among autosomal dominant inherited forms of HSP, the most common are SPG4, SPG3 and SPG31. MATERIAL AND METHODS: Our aim was the clinical characterisation of a large group of patients with SPG4, SPG3 and SPG31. ...CONCLUSIONS: The primarily pure form of HSP is prese …
Among autosomal dominant inherited forms of HSP, the most common are SPG4, SPG3 and SPG31. MATERIAL AND METHODS: Our aim was the clin …
Transverse endoplasmic reticulum expansion in hereditary spastic paraplegia corticospinal axons.
Zhu PP, Hung HF, Batchenkova N, Nixon-Abell J, Henderson J, Zheng P, Renvoisé B, Pang S, Xu CS, Saalfeld S, Funke J, Xie Y, Svara F, Hess HF, Blackstone C. Zhu PP, et al. Hum Mol Genet. 2022 Aug 23;31(16):2779-2795. doi: 10.1093/hmg/ddac072. Hum Mol Genet. 2022. PMID: 35348668 Free PMC article.
Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane-bound GTPase atlastin-1 (ATL1; SPG3A) and the reticulon-like, microtubule-binding protein REEP1 (REEP1; SPG31). These proteins bind …
Common autosomal dominant HSPs are caused by mutations in genes encoding the microtubule-severing ATPase spastin (SPAST; SPG4), the membrane …
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. …
A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), S …