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
2004 1
2006 1
2009 3
2010 4
2013 1
2014 2
2015 1
2016 1
2018 5
2019 6
2021 5
2022 1
2023 3
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

29 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 38"
Page 1
Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ. Ortega Suero G, et al. Neurologia (Engl Ed). 2023 Jul-Aug;38(6):379-386. doi: 10.1016/j.nrleng.2023.04.003. Epub 2023 Apr 28. Neurologia (Engl Ed). 2023. PMID: 37120112 Free article.
INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. ...A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary …
INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. ...A total of 1371 patient …
Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice.
Galatolo D, Trovato R, Scarlatti A, Rossi S, Natale G, De Michele G, Barghigiani M, Cioffi E, Filla A, Bilancieri G, Casali C, Santorelli FM, Silvestri G, Tessa A. Galatolo D, et al. Neurogenetics. 2023 Jul;24(3):147-160. doi: 10.1007/s10048-023-00717-9. Epub 2023 May 3. Neurogenetics. 2023. PMID: 37131039 Review.
Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes associated with additional neurological and extrapyramidal features (complex HSP). ... …
Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological disorders mainly characterized by c …
Urological dysfunction in patients with hereditary spastic paraplegia.
Joussain C, Levy J, Charlanes A, Even A, Falcou L, Chartier Kastler E, Denys P. Joussain C, et al. Neurourol Urodyn. 2019 Apr;38(4):1081-1085. doi: 10.1002/nau.23957. Epub 2019 Mar 8. Neurourol Urodyn. 2019. PMID: 30848841
AIMS: Purposes of this study were to describe lower urinary tract symptoms (LUTS) and related urodynamic patterns in patients with hereditary spastic paraplegia (HSP), and to characterize LUTS management and associated uronephrological complications. ...
AIMS: Purposes of this study were to describe lower urinary tract symptoms (LUTS) and related urodynamic patterns in patients with heredi …
Gastrointestinal and urinary complaints in adults with hereditary spastic paraparesis.
Kanavin ØJ, Fjermestad KW. Kanavin ØJ, et al. Orphanet J Rare Dis. 2018 Apr 16;13(1):58. doi: 10.1186/s13023-018-0804-8. Orphanet J Rare Dis. 2018. PMID: 29661209 Free PMC article.
BACKGROUND: Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. ...Gastrointestinal complaints included at least "much" complaints with constipation (14.6%) and alternating constipation/diarrhea (8.0%), and …
BACKGROUND: Hereditary spastic paraparesis (HSP) is a group of rare genetic disorders affecting the central nervous system. .. …
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria.
Wei Y, Zhou Y, Yuan J, Ni J, Qian M, Cui L, Peng B. Wei Y, et al. J Neurol. 2019 Oct;266(10):2434-2439. doi: 10.1007/s00415-019-09432-8. Epub 2019 Jun 15. J Neurol. 2019. PMID: 31203424
Untreated disease is characterized biochemically by methylmalonic aciduria and hyperhomocysteinemia, while the clinical features are variable. When spastic paraplegia (SP) dominates, it is difficult to differentiate from hereditary spastic paraplegi …
Untreated disease is characterized biochemically by methylmalonic aciduria and hyperhomocysteinemia, while the clinical features are variabl …
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations.
Servelhere KR, Faber I, Saute JA, Moscovich M, D'Abreu A, Jardim LB, Teive HA, Lopes-Cendes I, Franca MC Jr. Servelhere KR, et al. Eur J Neurol. 2016 Feb;23(2):408-11. doi: 10.1111/ene.12839. Eur J Neurol. 2016. PMID: 26806216
BACKGROUND AND PURPOSE: Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequency and clinical relevance in SPG4 hereditary spastic paraplegia (SPG4-HSP). METHODS: Thirty patients with SPG4-HSP and …
BACKGROUND AND PURPOSE: Non-motor manifestations are frequently overlooked in degenerative disorders and little is known about their frequen …
Inborn errors of metabolism in the biosynthesis and remodelling of phospholipids.
Wortmann SB, Espeel M, Almeida L, Reimer A, Bosboom D, Roels F, de Brouwer AP, Wevers RA. Wortmann SB, et al. J Inherit Metab Dis. 2015 Jan;38(1):99-110. doi: 10.1007/s10545-014-9759-7. Epub 2014 Sep 2. J Inherit Metab Dis. 2015. PMID: 25178427 Review.
Boucher-Neuhauser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 and 56 (HSP28, DDHD1; HSP54, DDHD2; HSP56, CYP2U1), Lenz Majewski syndrome (PTDSS1), spondylometaphyseal dysplasia with cone-rod dystrophy (P …
Boucher-Neuhauser/Gordon Holmes syndrome (PNPLA6), PHARC syndrome (ABHD12), hereditary spastic paraplegia type 28, 54 a …
Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population.
Kartanou C, Kontogeorgiou Z, Rentzos M, Potagas C, Aristeidou S, Kapaki E, Paraskevas GP, Constantinides VC, Stefanis L, Papageorgiou SG, Houlden H, Panas M, Koutsis G, Karadima G. Kartanou C, et al. J Neurol Sci. 2022 Nov 15;442:120450. doi: 10.1016/j.jns.2022.120450. Epub 2022 Oct 5. J Neurol Sci. 2022. PMID: 36252286
For this reason, 957 patients (467 with ALS, 53 with HD-like syndromes, 247 with dementia, 175 with PD and 15 with hereditary spastic paraplegia, HSP) and 321 controls were tested for the C9ORF72 repeat expansion. ...
For this reason, 957 patients (467 with ALS, 53 with HD-like syndromes, 247 with dementia, 175 with PD and 15 with hereditary spas …
Spinal direct current stimulation (tsDCS) in hereditary spastic paraplegias (HSP): A sham-controlled crossover study.
Ardolino G, Bocci T, Nigro M, Vergari M, Di Fonzo A, Bonato S, Cogiamanian F, Cortese F, Cova I, Barbieri S, Priori A. Ardolino G, et al. J Spinal Cord Med. 2021 Jan;44(1):46-53. doi: 10.1080/10790268.2018.1543926. Epub 2018 Dec 3. J Spinal Cord Med. 2021. PMID: 30508408 Free PMC article. Clinical Trial.
Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases characterized by progressive spasticity and lower limb weakness. We assessed the effects of transcutaneous spinal direct current stimulation (tsDCS) …
Objective: Hereditary spastic paraplegia (HSP) represents a heterogeneous group of neurodegenerative diseases character …
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
Lin X, Su HZ, Dong EL, Lin XH, Zhao M, Yang C, Wang C, Wang J, Chen YJ, Yu H, Xu J, Ma LX, Xiong ZQ, Wang N, Chen WJ. Lin X, et al. Brain. 2019 Aug 1;142(8):2238-2252. doi: 10.1093/brain/awz158. Brain. 2019. PMID: 31203368
Hereditary spastic paraplegias refer to a heterogeneous group of neurodegenerative disorders resulting from degeneration of the corticospinal tract. ...Here, to expand on the increasingly broad pools of previously unknown hereditary spastic parapleg …
Hereditary spastic paraplegias refer to a heterogeneous group of neurodegenerative disorders resulting from degeneration of th …
29 results