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
2002 2
2004 1
2006 1
2008 1
2009 2
2012 1
2013 3
2014 2
2016 3
2018 1
2019 1
2020 3
2021 4
2022 4
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

27 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 43"
Page 1
Hereditary spastic paraplegia.
Roşulescu E, Stănoiu C, Buteică E, Stănoiu B, Burada F, Zăvăleanu M. Roşulescu E, et al. Rom J Morphol Embryol. 2009;50(2):299-303. Rom J Morphol Embryol. 2009. PMID: 19434327 Free article.
Hereditary spastic paraplegia (HSP) or Strumpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. ...Conventionally, HSP is divided into two clinical groups, uncomplicated ( …
Hereditary spastic paraplegia (HSP) or Strumpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with …
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia.
Xing F, Du J. Xing F, et al. Neurol Sci. 2022 Aug;43(8):4989-4996. doi: 10.1007/s10072-022-05921-3. Epub 2022 Mar 28. Neurol Sci. 2022. PMID: 35348942
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts, and more than 80 HSP loci have been mapped to cause HSP. ...
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of rare neurodegenerative disorders affecting the …
VCP-related myopathy: a case series and a review of literature.
Iannibelli E, Gibertini S, Cheli M, Blasevich F, Cavaliere A, Riolo G, Ruggieri A, Maggi L. Iannibelli E, et al. Acta Myol. 2023 Mar 31;42(1):2-13. doi: 10.36185/2532-1900-244. eCollection 2023. Acta Myol. 2023. PMID: 37091525 Free PMC article. Review.
We analysed the patient' biopsies, all characterized by a muscular phenotype, and we executed immunofluorescence staining to evaluate the presence of proteins: p62, VCP, desmin, myotilin, TDP-43. Eventually we performed a brief literature review to compare our cases with t …
We analysed the patient' biopsies, all characterized by a muscular phenotype, and we executed immunofluorescence staining to evaluate the pr …
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
Schüle R, Wiethoff S, Martus P, Karle KN, Otto S, Klebe S, Klimpe S, Gallenmüller C, Kurzwelly D, Henkel D, Rimmele F, Stolze H, Kohl Z, Kassubek J, Klockgether T, Vielhaber S, Kamm C, Klopstock T, Bauer P, Züchner S, Liepelt-Scarfone I, Schöls L. Schüle R, et al. Ann Neurol. 2016 Apr;79(4):646-58. doi: 10.1002/ana.24611. Epub 2016 Mar 11. Ann Neurol. 2016. PMID: 26856398
OBJECTIVE: Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic gait disturbance. ...METHODS: We recruited 608 HSP cases from 519 families of mostly German origin. Clinical severity was assessed by th …
OBJECTIVE: Hereditary spastic paraplegias (HSPs) are genetically driven disorders with the hallmark of progressive spastic …
Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany.
Orsucci D, Petrucci L, Ienco EC, Chico L, Simi P, Fogli A, Baldinotti F, Simoncini C, LoGerfo A, Carlesi C, Arnoldi A, Bassi MT, Siciliano G, Bonuccelli U, Mancuso M. Orsucci D, et al. Clin Neurol Neurosurg. 2014 May;120:14-9. doi: 10.1016/j.clineuro.2014.02.002. Epub 2014 Feb 17. Clin Neurol Neurosurg. 2014. PMID: 24731568
OBJECTIVE: Hereditary spastic paraparesis or paraplegias (HSPs) are a group of neurogenetic conditions with prominent involvement of the pyramidal tracts. ...The minimum prevalence of HSP in our area was of about 2.17-3.43/100,000. The SF-36 (quality of life) …
OBJECTIVE: Hereditary spastic paraparesis or paraplegias (HSPs) are a group of neurogenetic conditions with prominent involvem …
Hereditary spastic paraplegia type 43 (SPG43) is caused by mutation in C19orf12.
Landouré G, Zhu PP, Lourenço CM, Johnson JO, Toro C, Bricceno KV, Rinaldi C, Meilleur KG, Sangaré M, Diallo O, Pierson TM, Ishiura H, Tsuji S, Hein N, Fink JK, Stoll M, Nicholson G, Gonzalez MA, Speziani F, Dürr A, Stevanin G, Biesecker LG; NIH Intramural Sequencing Center; Accardi J, Landis DM, Gahl WA, Traynor BJ, Marques W Jr, Züchner S, Blackstone C, Fischbeck KH, Burnett BG. Landouré G, et al. Hum Mutat. 2013 Oct;34(10):1357-60. doi: 10.1002/humu.22378. Epub 2013 Aug 12. Hum Mutat. 2013. PMID: 23857908 Free PMC article.
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described in two Malian sisters. ...
We report here the genetic basis for a form of progressive hereditary spastic paraplegia (SPG43) previously described i …
A case of spastic paraplegia type 11 mimicking a GM2-gangliosidosis.
Lopergolo D, Berti G, Mari F, Bertini E, Rufa A, Battisti C, Sicurelli F, Renieri A, Federico A, Sandhoff K, Malandrini A. Lopergolo D, et al. Neurol Sci. 2022 Apr;43(4):2849-2852. doi: 10.1007/s10072-021-05841-8. Epub 2022 Jan 23. Neurol Sci. 2022. PMID: 35066644
INTRODUCTION: Spastic paraplegia type 11 (SPG11) is the most frequent autosomal recessive HSP. ...However, further analysis did not allow to confirm such hypothesis. In adulthood we detected flaccid paraplegia, nystagmus, axonal motor neuropathy, carpus callo …
INTRODUCTION: Spastic paraplegia type 11 (SPG11) is the most frequent autosomal recessive HSP. ...However, further analysis di …
Transactivation response DNA-binding protein of 43 kDa proteinopathy and lysosomal abnormalities in spastic paraplegia type 11.
Mori S, Honda H, Hamasaki H, Sasagasako N, Suzuki SO, Furuya H, Taniwaki T, Iwaki T. Mori S, et al. Neuropathology. 2021 Aug;41(4):253-265. doi: 10.1111/neup.12733. Epub 2021 May 24. Neuropathology. 2021. PMID: 34031922
Spastic paraplegia type 11 (SPG11) is the most common autosomal recessive hereditary spastic paraplegia with thinning of the corpus callosum. Spatacsin, a protein encoded by the SPG11 gene, is associated with autophagy. SPG11 patients show sp …
Spastic paraplegia type 11 (SPG11) is the most common autosomal recessive hereditary spastic paraplegia w …
Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.
Giannoccaro MP, Matteo E, Bartiromo F, Tonon C, Santorelli FM, Liguori R, Rizzo G. Giannoccaro MP, et al. Neurol Sci. 2022 Sep;43(9):5501-5511. doi: 10.1007/s10072-022-06145-1. Epub 2022 May 21. Neurol Sci. 2022. PMID: 35595875
INTRODUCTION: An increasing number of cases of comorbid hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) have been described. ...
INTRODUCTION: An increasing number of cases of comorbid hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) …
Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia.
Margetis K, Korfias S, Boutos N, Gatzonis S, Themistocleous M, Siatouni A, Dalivigka Z, Flaskas T, Stranjalis G, Boviatsis E, Sakas D. Margetis K, et al. Clin Neurol Neurosurg. 2014 Aug;123:142-5. doi: 10.1016/j.clineuro.2014.05.024. Epub 2014 Jun 4. Clin Neurol Neurosurg. 2014. PMID: 24973568 Clinical Trial.
OBJECTIVE: We study the effectiveness and safety of intrathecal baclofen therapy for the treatment of spasticity and gait improvement in patients suffering from hereditary spastic paraplegia. METHODS: Sixteen patients diagnosed with hereditary spast …
OBJECTIVE: We study the effectiveness and safety of intrathecal baclofen therapy for the treatment of spasticity and gait improvement in pat …
27 results