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Page 1
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
BACKGROUND: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and genetic spectrum of HSP due to large fragment deletions/duplications has yet to be fully defined. ...RES …
BACKGROUND: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) …
Childhood-onset hereditary spastic paraplegia and its treatable mimics.
Ebrahimi-Fakhari D, Saffari A, Pearl PL. Ebrahimi-Fakhari D, et al. Mol Genet Metab. 2022 Dec;137(4):436-444. doi: 10.1016/j.ymgme.2021.06.006. Epub 2021 Jun 24. Mol Genet Metab. 2022. PMID: 34183250 Free PMC article. Review.
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are among the most common "mimics" of cerebral palsy. ...In this short review, we summarize the clinical and molecular understanding of: 1) childhoo …
Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that present with spastic diplegia are amon …
Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5.
Prestsæter S, Koht J, Lamari F, Tallaksen CME, Hoven STJ, Vigeland MD, Selmer KK, Rydning SL. Prestsæter S, et al. J Neurol Sci. 2020 Dec 15;419:117211. doi: 10.1016/j.jns.2020.117211. Epub 2020 Oct 29. J Neurol Sci. 2020. PMID: 33160247 Free article.
Spastic paraplegia type 5 (SPG5/HSP-CYP7B1) is an autosomal recessive hereditary spastic paraplegia (HSP) caused by biallelic variants in the CYP7B1 gene, resulting in dysfunction of the enzyme oxysterol-7-alpha-hydroxylase. The consequen …
Spastic paraplegia type 5 (SPG5/HSP-CYP7B1) is an autosomal recessive hereditary spastic paraplegi …
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
Schöls L, Rattay TW, Martus P, Meisner C, Baets J, Fischer I, Jägle C, Fraidakis MJ, Martinuzzi A, Saute JA, Scarlato M, Antenora A, Stendel C, Höflinger P, Lourenco CM, Abreu L, Smets K, Paucar M, Deconinck T, Bis DM, Wiethoff S, Bauer P, Arnoldi A, Marques W, Jardim LB, Hauser S, Criscuolo C, Filla A, Züchner S, Bassi MT, Klopstock T, De Jonghe P, Björkhem I, Schüle R. Schöls L, et al. Brain. 2017 Dec 1;140(12):3112-3127. doi: 10.1093/brain/awx273. Brain. 2017. PMID: 29126212 Free PMC article. Clinical Trial.
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative disorders defined by progressive neurodegeneration of the corticospinal tract motor neurons. SPG5 …
Spastic paraplegia type 5 (SPG5) is a rare subtype of hereditary spastic paraplegia, a highly hete …
Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
Lin Q, Liu Y, Ye Z, Hu J, Cai W, Weng Q, Chen WJ, Wang N, Cao D, Lin Y, Fu Y. Lin Q, et al. Orphanet J Rare Dis. 2021 Sep 19;16(1):391. doi: 10.1186/s13023-021-02014-w. Orphanet J Rare Dis. 2021. PMID: 34538260 Free PMC article.
BACKGROUND: Aim to identify potential biomarkers to assess therapeutic efficacy for hereditary spastic paraplegias type 5 (SPG5) by investigating the clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) features. ...SPG5 patients also unde …
BACKGROUND: Aim to identify potential biomarkers to assess therapeutic efficacy for hereditary spastic paraplegias type 5 (SPG5 …
Vitamin D(3) deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis.
Ehnert S, Hauser S, Hengel H, Höflinger P, Schüle R, Lindig T, Baets J, Deconinck T, de Jonghe P, Histing T, Nüssler AK, Schöls L, Rattay TW. Ehnert S, et al. Sci Rep. 2024 Mar 27;14(1):7335. doi: 10.1038/s41598-024-53057-5. Sci Rep. 2024. PMID: 38538623 Free PMC article.
Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and afferent ataxia. SPG5 is caused by bi-allelic loss of function mutations …
Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder chara …
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
Chou CT, Soong BW, Lin KP, Tsai YS, Jih KY, Liao YC, Lee YC. Chou CT, et al. Ann Clin Transl Neurol. 2020 Apr;7(4):486-496. doi: 10.1002/acn3.51019. Epub 2020 Mar 22. Ann Clin Transl Neurol. 2020. PMID: 32202070 Free PMC article.
The diagnosis of SPG5 was ascertained by the presence of biallelic CYP7B1 mutations. The SPG5 patients received clinical, electrophysiological, and neuroimaging evaluations. ...RESULTS: Nineteen SPG5 patients from 17 families were identified. They typically p …
The diagnosis of SPG5 was ascertained by the presence of biallelic CYP7B1 mutations. The SPG5 patients received clinical, elec …
Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.
Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F. Marelli C, et al. Brain. 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297. Brain. 2018. PMID: 29228183 Clinical Trial.
The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type …
The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lo …
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients.
Erfanian Omidvar M, Torkamandi S, Rezaei S, Alipoor B, Omrani MD, Darvish H, Ghaedi H. Erfanian Omidvar M, et al. J Neurol. 2021 Jun;268(6):2065-2082. doi: 10.1007/s00415-019-09633-1. Epub 2019 Nov 19. J Neurol. 2021. PMID: 31745725
AIMS: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders. ...METHODS AND RESULTS: We retrieved literature on genotype-phenotype associations in patients with HSP and mutated SPAST, REEP1, ATL1, SPG11, SPG15, SPG7, S …
AIMS: The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited neurodegenerative disorders. ...METHODS AND RE …
Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients.
Mou Y, Nandi G, Mukte S, Chai E, Chen Z, Nielsen JE, Nielsen TT, Criscuolo C, Blackstone C, Fraidakis MJ, Li XJ. Mou Y, et al. Orphanet J Rare Dis. 2023 Apr 6;18(1):72. doi: 10.1186/s13023-023-02666-w. Orphanet J Rare Dis. 2023. PMID: 37024986 Free PMC article.
BACKGROUND: Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotendinous xanthomatosis (CTX) and hereditary spastic paraplegia type 5 (SPG5), respectively. These rare disea …
BACKGROUND: Biallelic mutations in CYP27A1 and CYP7B1, two critical genes regulating cholesterol and bile acid metabolism, cause cerebrotend …
28 results