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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 17"
Page 1
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to the upper motor neuron is a core sign. ...We report here the clinical and genetic results of 1550 …
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spa …
Dysarthria in hereditary spastic paraplegia type 4.
Jacinto-Scudeiro LA, Rothe-Neves R, Dos Santos VB, Machado GD, Burguêz D, Padovani MMP, Ayres A, Rech RS, González-Salazar C, Junior MCF, Saute JAM, Olchik MR. Jacinto-Scudeiro LA, et al. Clinics (Sao Paulo). 2022 Dec 3;78:100128. doi: 10.1016/j.clinsp.2022.100128. eCollection 2023. Clinics (Sao Paulo). 2022. PMID: 36473366 Free PMC article.
OBJECTIVE: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated it with their clinical data. ...In addition, disease severity was assessed with the Spastic Paraplegia Rating Scale (SPRS). RES …
OBJECTIVE: To describe the speech pattern of patients with hereditary Spastic Paraplegia type 4 (SPG4) and correlated i …
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV. Fereshtehnejad SM, et al. Neurol Sci. 2023 Mar;44(3):947-959. doi: 10.1007/s10072-022-06516-8. Epub 2022 Nov 28. Neurol Sci. 2023. PMID: 36441344 Free PMC article.
BACKGROUND: Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci designated SPG (SPastic parapleGia). ...RESULTS: The HSP-MD group had an older age of onset (20.5 16.0 vs. 17.1 14.2 yr, …
BACKGROUND: Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci de …
Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.
Siow SF, Yeow D, Rudaks LI, Jia F, Wali G, Sue CM, Kumar KR. Siow SF, et al. Genes (Basel). 2023 Sep 3;14(9):1756. doi: 10.3390/genes14091756. Genes (Basel). 2023. PMID: 37761896 Free PMC article. Review.
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. ...Seventy studies met the inclusion criteria, and eighty-three outcome measures were identified. The Spastic Paraplegia Rating Scale (SPRS) was the most …
Hereditary spastic paraplegia (HSP) is characterized by progressive lower limb spasticity. ...Seventy studies met the i …
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 SPG5 patients received clinical, electrophysiological, and neuroimaging evaluations. Disease severity was assessed by using the Spastic Paraplegia Rating Scale (SPRS) and the disability score. Two microsatellite markers as well as 18 single-nucleotide polymorphi …
The SPG5 patients received clinical, electrophysiological, and neuroimaging evaluations. Disease severity was assessed by using the Spast …
Specific Gait Changes in Prodromal Hereditary Spastic Paraplegia Type 4: preSPG4 Study.
Laßmann C, Ilg W, Schneider M, Völker M, Haeufle DFB, Schüle R, Giese M, Synofzik M, Schöls L, Rattay TW. Laßmann C, et al. Mov Disord. 2022 Dec;37(12):2417-2426. doi: 10.1002/mds.29199. Epub 2022 Aug 29. Mov Disord. 2022. PMID: 36054444
BACKGROUND: In hereditary spastic paraplegia type 4 (SPG4), subclinical gait changes might occur years before patients realize gait disturbances. ...Those features were correlated with disease severity as assessed by the Spastic Paraplegia Ratin …
BACKGROUND: In hereditary spastic paraplegia type 4 (SPG4), subclinical gait changes might occur years before patients …
Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.
Akçakaya NH, Özeş Ak B, Gonzalez MA, Züchner S, Battaloğlu E, Parman Y. Akçakaya NH, et al. Neurol Neurochir Pol. 2020;54(2):176-184. doi: 10.5603/PJNNS.a2020.0026. Epub 2020 Apr 3. Neurol Neurochir Pol. 2020. PMID: 32242913
OBJECTIVES: Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present with lower limb spasticity. ...This study aimed to investigate the clinical and genetic aetiology in a group of HSP patients. PATIENTS AND MET …
OBJECTIVES: Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present wi …
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions.
Méreaux JL, Davoine CS, Pellerin D, Coarelli G, Coutelier M, Ewenczyk C, Monin ML, Anheim M, Le Ber I, Thobois S, Gobert F, Guillot-Noël L, Forlani S, Jornea L, Heinzmann A, Sangare A, Gaymard B, Guyant-Maréchal L, Charles P, Marelli C, Honnorat J, Degos B, Tison F, Sangla S, Simonetta-Moreau M, Salachas F, Tchikviladzé M, Castelnovo G, Mochel F, Klebe S, Castrioto A, Fenu S, Méneret A, Bourdain F, Wandzel M, Roth V, Bonnet C, Riant F, Stevanin G, Noël S, Fauret-Amsellem AL, Bahlo M, Lockhart PJ, Brais B, Renaud M, Brice A, Durr A. Méreaux JL, et al. EBioMedicine. 2024 Jan;99:104931. doi: 10.1016/j.ebiom.2023.104931. Epub 2023 Dec 27. EBioMedicine. 2024. PMID: 38150853 Free PMC article.
METHODS: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases with cerebellar ataxia and 324 affected relatives, 475 controls, as well as 119 cases with spastic paraplegia, and 113 with fam …
METHODS: We sized this repeat in 1876 individuals from France sampled for research purposes in this cross-sectional study: 845 index cases w …
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Haj Salem I, Beaudin M, Stumpf M, Estiar MA, Côté PO, Brunet F, Gamache PL, Rouleau GA, Mourabit-Amari K, Gan-Or Z, Dupré N. Haj Salem I, et al. Can J Neurol Sci. 2021 Sep;48(5):655-665. doi: 10.1017/cjn.2020.277. Epub 2021 Jan 5. Can J Neurol Sci. 2021. PMID: 33397523
OBJECTIVE: To estimate the minimum prevalence of adult hereditary ataxias (HA) and spastic paraplegias (HSP) in Eastern Quebec and to evaluate the proportion of associated mutations in identified genes. ...In total, 52.4% of patients had a confirmed genetic diagnosi …
OBJECTIVE: To estimate the minimum prevalence of adult hereditary ataxias (HA) and spastic paraplegias (HSP) in Eastern Quebec …
Progression of Functional Gait in Hereditary Spastic Paraplegias.
Cubillos-Arcila DM, Machado GD, Sehnem L, Burguêz D, Zanardi APJ, Martins VF, Peyré-Tartaruga LA, Saute JAM. Cubillos-Arcila DM, et al. Cerebellum. 2022 Jun;21(3):350-357. doi: 10.1007/s12311-021-01302-2. Epub 2021 Jul 9. Cerebellum. 2022. PMID: 34244902
Hereditary spastic paraplegias (HSP) are characterized by progressive deterioration of axonal projections of upper motor neurons leading to abnormal locomotion. ...Spastic paraplegia rating scale (SPRS), ten-meter walking test (10MWT), timed up and go …
Hereditary spastic paraplegias (HSP) are characterized by progressive deterioration of axonal projections of upper motor neuro …
63 results