Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1994 1
1999 1
2000 1
2003 1
2005 1
2007 1
2008 1
2009 3
2010 1
2011 1
2012 3
2013 2
2014 3
2018 7
2019 2
2020 3
2021 6
2022 2
2023 3
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

41 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 18"
Page 1
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.
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robust phenotyping studies to understand genetic and phenotypic heterogeneity and to support interventional trials. ZFYVE26-associated heredi …
In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs to be translated into robu …
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-nucleot …
The SPG5 patients received clinical, electrophysiological, and neuroimaging evaluations. Disease severity was assessed by using the Spast …
Autonomic dysfunction in hereditary spastic paraplegia type 4.
González-Salazar C, Takazaki KAG, Martinez ARM, Pimentel-Silva LR, Jacinto-Scudeiro LA, Nakagawa ÉY, Fujiwara Murakami CE, Saute JAM, Pedroso JL, Barsottini OGP, Teive HAG, França MC Jr. González-Salazar C, et al. Eur J Neurol. 2019 Apr;26(4):687-693. doi: 10.1111/ene.13878. Epub 2019 Jan 10. Eur J Neurol. 2019. PMID: 30489674
BACKGROUND AND PURPOSE: SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is characterized by progressive lower limb weakness, spasticity and hyperreflexia. ...P values <0.05 were considered significant. RESULTS: …
BACKGROUND AND PURPOSE: SPAST mutations are the most common cause of hereditary spastic paraplegia (SPG4-HSP), which is …
Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations.
Servelhere KR, Faber I, Martinez A, Nickel R, Moro A, Germiniani FMB, Moscovich M, Blume TR, Munhoz RP, Teive HAG, França MC Jr. Servelhere KR, et al. Arq Neuropsiquiatr. 2018 Mar;76(3):183-188. doi: 10.1590/0004-282x20180013. Arq Neuropsiquiatr. 2018. PMID: 29809239 Free article.
Motor and non-motor manifestations are common and disabling features of hereditary spastic paraplegia (HSP). Botulinum toxin type A (Btx-A) is considered effective for spasticity and may improve gait in these patients. ...Methods Thirty-three adult patients w …
Motor and non-motor manifestations are common and disabling features of hereditary spastic paraplegia (HSP). Botulinum …
Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4.
Navas-Sánchez FJ, Fernández-Pena A, Martín de Blas D, Alemán-Gómez Y, Marcos-Vidal L, Guzmán-de-Villoria JA, Fernández-García P, Romero J, Catalina I, Lillo L, Muñoz-Blanco JL, Ordoñez-Ugalde A, Quintáns B, Pardo J, Sobrido MJ, Carmona S, Grandas F, Desco M. Navas-Sánchez FJ, et al. J Neurol. 2021 Jul;268(7):2429-2440. doi: 10.1007/s00415-020-10387-4. Epub 2021 Jan 28. J Neurol. 2021. PMID: 33507371
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. ...We found a significant reduction in thalamic volume bilaterally, as well as an inward deformation, mainly in the sensory-motor thalamic re …
SPG4 is an autosomal dominant pure form of hereditary spastic paraplegia (HSP) caused by mutations in the SPAST gene. . …
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 …
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
Di Donato I, Gallo A, Ricca I, Fini N, Silvestri G, Gurrieri F, Cirillo M, Cerase A, Natale G, Matrone F, Riso V, Melone MAB, Tessa A, De Michele G, Federico A, Filla A, Dotti MT, Santorelli FM. Di Donato I, et al. Neurol Sci. 2022 Feb;43(2):1071-1077. doi: 10.1007/s10072-021-05462-1. Epub 2021 Jul 23. Neurol Sci. 2022. PMID: 34296356 Free PMC article.
Here, we present 10 patients from 8 unrelated families with POLR3A-related late-onset spastic ataxia, all harboring the c.1909 + 22G > A variant. Most of them showed an ataxic-spastic picture, two a "pure" cerebellar phenotype, and one a "pure" spastic pre …
Here, we present 10 patients from 8 unrelated families with POLR3A-related late-onset spastic ataxia, all harboring the c.1909 + 22G …
Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience.
Cui F, Sun L, Qiao J, Xiong J, Zhao Y, Li J, Li M, Chen S, Huang X. Cui F, et al. Neurol Res. 2018 Dec;40(12):1088-1093. doi: 10.1080/01616412.2018.1522412. Neurol Res. 2018. PMID: 30352018
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified clinical manifestations. ...Reduced cognitive function was the most common manifestation (55.6%) of the complicated HSP patients. The mean di …
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified c …
A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
Kilic MA, Yildiz EP, Deniz A, Coskun O, Kurekci F, Avci R, Genc HM, Yesil G, Akbas S, Yesilyurt A, Kara B. Kilic MA, et al. Pediatr Neurol. 2024 Mar;152:189-195. doi: 10.1016/j.pediatrneurol.2024.01.005. Epub 2024 Jan 6. Pediatr Neurol. 2024. PMID: 38301322
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders. ...In our cohort, there were two subjects each with SPG11, SPG46, and SPG 50 followed by single subject each with SPG3A, SPG4, SPG7, SPG8, SPG30, …
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a group of genetically heterogeneous neurodegenerative disorders. ...In …
Mild cognitive impairment in novel SPG11 mutation-related sporadic hereditary spastic paraplegia with thin corpus callosum: case series.
Li C, Yan Q, Duan FJ, Zhao C, Zhang Z, Du Y, Zhang W. Li C, et al. BMC Neurol. 2021 Jan 11;21(1):12. doi: 10.1186/s12883-020-02040-4. BMC Neurol. 2021. PMID: 33430805 Free PMC article.
BACKGROUND: SPG11 mutation-related autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) is the most common cause in complicated forms of HSP, usually presenting comprehensive mental retardation on early-onset stage preceding …
BACKGROUND: SPG11 mutation-related autosomal recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC …
41 results