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Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
Hsu SL, Hsueh HW, Chen SY, Chang YY, Tan S, Hong CT, Tsai YS, Yu KW, Wu HM, Liao YC, Soong BW, Hu CJ, Lan MY, Lee YC. Hsu SL, et al. Parkinsonism Relat Disord. 2021 Jun;87:87-91. doi: 10.1016/j.parkreldis.2021.05.004. Epub 2021 May 11. Parkinsonism Relat Disord. 2021. PMID: 34015694
The SPG3A patients received clinical, electrophysiological, and neuroimaging evaluations. ...CONCLUSION: SPG3A accounts for 4% (11 out of 274) of HSP in the Taiwanese cohort. ...
The SPG3A patients received clinical, electrophysiological, and neuroimaging evaluations. ...CONCLUSION: SPG3A accounts for 4% …
Selective dorsal rhizotomy for spasticity of genetic etiology.
Lohkamp LN, Coulter I, Ibrahim GM. Lohkamp LN, et al. Childs Nerv Syst. 2020 Jul;36(7):1357-1365. doi: 10.1007/s00381-020-04601-x. Epub 2020 Apr 16. Childs Nerv Syst. 2020. PMID: 32300873 Review.
These individuals were found to have several genetic mutations including ALS2, SPG4, and SPG3A. The mean age at the time of surgery was 14.9 years (median 10 years, range 3-37 years). ...
These individuals were found to have several genetic mutations including ALS2, SPG4, and SPG3A. The mean age at the time of surgery w …
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 (SP …
SPG8 mutations in Italian families: clinical data and literature review.
Ginanneschi F, D'Amore A, Barghigiani M, Tessa A, Rossi A, Santorelli FM. Ginanneschi F, et al. Neurol Sci. 2020 Mar;41(3):699-703. doi: 10.1007/s10072-019-04180-z. Epub 2019 Dec 9. Neurol Sci. 2020. PMID: 31814071 Review.
The differential diagnosis with other forms of AD-HSPs seems relatively easier if one considers the early-onset manifestations in SPG3A and the peripheral nervous system and cerebellar involvement seen in SPG31....
The differential diagnosis with other forms of AD-HSPs seems relatively easier if one considers the early-onset manifestations in SPG3A …
ER network formation and membrane fusion by atlastin1/SPG3A disease variants.
Ulengin I, Park JJ, Lee TH. Ulengin I, et al. Mol Biol Cell. 2015 May 1;26(9):1616-28. doi: 10.1091/mbc.E14-10-1447. Epub 2015 Mar 11. Mol Biol Cell. 2015. PMID: 25761634 Free PMC article.
Because the atlastin GTPase is sufficient to catalyze membrane fusion and required to form the ER network, at least in nonneuronal cells, it is logically assumed that defects in ER membrane morphogenesis due to impaired fusion activity are the primary drivers of SPG3A-asso …
Because the atlastin GTPase is sufficient to catalyze membrane fusion and required to form the ER network, at least in nonneuronal cells, it …
Copy number variations in SPAST and ATL1 are rare among Brazilians.
Fussiger H, Pereira BLDS, Padilha JPD, Donis KC; Rare-Genomes Project Consortium; Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM. Fussiger H, et al. Clin Genet. 2023 May;103(5):580-584. doi: 10.1111/cge.14280. Epub 2023 Jan 15. Clin Genet. 2023. PMID: 36537231
Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant subtypes of hereditary spastic paraplegias (HSP). ...No CNVs in SPAST and ATL1 were found. Copy number variations are rare among SPG4 and …
Copy number variations (CNV) may represent a significant proportion of SPG4 and SPG3A diagnosis, the most frequent autosomal dominant …
Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia.
Mou Y, Dong Y, Chen Z, Denton KR, Duff MO, Blackstone C, Zhang SC, Li XJ. Mou Y, et al. Acta Neuropathol Commun. 2020 Dec 7;8(1):214. doi: 10.1186/s40478-020-01088-0. Acta Neuropathol Commun. 2020. PMID: 33287888 Free PMC article.
Importantly, ATL1 mutations dysregulated proteolipid gene expression, reduced lipid droplet size in astrocytes, and unexpectedly disrupted cholesterol transfer from glia to neurons, leading to cholesterol deficiency in SPG3A cortical PNs. Applying cholesterol or conditione …
Importantly, ATL1 mutations dysregulated proteolipid gene expression, reduced lipid droplet size in astrocytes, and unexpectedly disrupted c …
Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes.
Servelhere KR, Rezende TJR, de Lima FD, de Brito MR, de França Nunes RF, Casseb RF, Pedroso JL, Barsottini OGP, Cendes F, França MC Jr. Servelhere KR, et al. Mov Disord. 2021 Jul;36(7):1644-1653. doi: 10.1002/mds.28519. Epub 2021 Feb 11. Mov Disord. 2021. PMID: 33576112
OBJECTIVE: We aimed to characterize cerebral and cerebellar damage in five HSP subtypes (9 SPG3A, 27 SPG4, 10 SPG7, 9 SPG8, and 29 SPG11) and to uncover the clinical and gene expression correlates. ...RESULTS: Brain abnormalities were found in all but one HSP group (SPG …
OBJECTIVE: We aimed to characterize cerebral and cerebellar damage in five HSP subtypes (9 SPG3A, 27 SPG4, 10 SPG7, 9 SPG8, and 29 SP …
De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.
Alecu JE, Saffari A, Jordan C, Srivastava S, Blackstone C, Ebrahimi-Fakhari D. Alecu JE, et al. Hum Mol Genet. 2023 Jan 1;32(1):93-103. doi: 10.1093/hmg/ddac182. Hum Mol Genet. 2023. PMID: 35925862 Free PMC article.
Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with a predominantly 'pure' HSP phenotype. Although a relatively large number of patients have been reported, no genotype-phenotype correlations …
Pathogenic variants in ATL1 are a known cause of autosomal-dominantly inherited hereditary spastic paraplegia (HSP-ATL1, SPG3A) with …
Spinal Cord Gray and White Matter Damage in Different Hereditary Spastic Paraplegia Subtypes.
Servelhere KR, Casseb RF, de Lima FD, Rezende TJR, Ramalho LP, França MC Jr. Servelhere KR, et al. AJNR Am J Neuroradiol. 2021 Mar;42(3):610-615. doi: 10.3174/ajnr.A7017. Epub 2021 Jan 21. AJNR Am J Neuroradiol. 2021. PMID: 33478946 Free PMC article.
MATERIALS AND METHODS: We analyzed 37 patients (17 men; mean age, 47.3 [SD, 16.5] years) and 21 healthy controls (7 men; mean age, 42.3 [SD, 13.2] years). There were 7 patients with spastic paraplegia type 3A (SPG3A), 12 with SPG4, 10 with SPG7, and 8 with SPG11. Image acq …
MATERIALS AND METHODS: We analyzed 37 patients (17 men; mean age, 47.3 [SD, 16.5] years) and 21 healthy controls (7 men; mean age, 42.3 [SD, …
37 results