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
1990 1
1996 1
2002 3
2003 1
2004 2
2008 2
2009 3
2010 1
2011 2
2012 4
2013 2
2014 1
2016 1
2019 1
2022 2
2023 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

24 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Spastic paraplegia 80, autosomal dominant"
Page 1
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, p < …
BACKGROUND: Hereditary spastic paraplegia (HSP) is a rare genetic disorder associated with mutations in > 80 loci de …
Hereditary spastic paraplegia: advances in genetic research. Hereditary Spastic Paraplegia Working group.
Fink JK, Heiman-Patterson T, Bird T, Cambi F, Dubé MP, Figlewicz DA, Fink JK, Haines JL, Heiman-Patterson T, Hentati A, Pericak-Vance MA, Raskind W, Rouleau GA, Siddique T. Fink JK, et al. Neurology. 1996 Jun;46(6):1507-14. doi: 10.1212/wnl.46.6.1507. Neurology. 1996. PMID: 8649538 Review.
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spasticity and weakness. ...A locus for autosomal recessive HSP is on chromosome 8q. Loci for autosomal dominant HSP have …
Hereditary spastic paraplegia (HSP) is a diverse group of inherited disorders characterized by progressive lower-extremity spa …
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 cortico …
Novel SPG3A and SPG4 mutations in dominant spastic paraplegia families.
Loureiro JL, Miller-Fleming L, Thieleke-Matos C, Magalhães P, Cruz VT, Coutinho P, Sequeiros J, Silveira I. Loureiro JL, et al. Acta Neurol Scand. 2009 Feb;119(2):113-8. doi: 10.1111/j.1600-0404.2008.01074.x. Epub 2008 Jul 29. Acta Neurol Scand. 2009. PMID: 18664244
Mutations in the SPG4 and SPG3A genes are responsible for approximately 50% of autosomal dominant HSP. To genetically diagnose the Portuguese families with HSP, mutation analysis was performed for the SPG4 and SPG3A genes. PATIENTS AND METHODS: Analysis was performe …
Mutations in the SPG4 and SPG3A genes are responsible for approximately 50% of autosomal dominant HSP. To genetically diagnose …
The distal hereditary motor neuropathies.
Rossor AM, Kalmar B, Greensmith L, Reilly MM. Rossor AM, et al. J Neurol Neurosurg Psychiatry. 2012 Jan;83(1):6-14. doi: 10.1136/jnnp-2011-300952. Epub 2011 Oct 25. J Neurol Neurosurg Psychiatry. 2012. PMID: 22028385 Review.
Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic …
Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with th …
Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study.
Erichsen AK, Koht J, Stray-Pedersen A, Abdelnoor M, Tallaksen CM. Erichsen AK, et al. Brain. 2009 Jun;132(Pt 6):1577-88. doi: 10.1093/brain/awp056. Epub 2009 Mar 31. Brain. 2009. PMID: 19339254
Hereditary spastic paraplegia prevalence was 7.4/100 000: 5.5/100 000 for autosomal dominant-hereditary spastic paraplegia, 0.6/100 000 for autosomal recessive-hereditary spastic paraplegia and 1.3/100 000 for isolate …
Hereditary spastic paraplegia prevalence was 7.4/100 000: 5.5/100 000 for autosomal dominant-hereditary spast …
Do not trust the pedigree: reduced and sex-dependent penetrance at a novel mutation hotspot in ATL1 blurs autosomal dominant inheritance of spastic paraplegia.
Varga RE, Schüle R, Fadel H, Valenzuela I, Speziani F, Gonzalez M, Rudenskaia G, Nürnberg G, Thiele H, Altmüller J, Alvarez V, Gamez J, Garbern JY, Nürnberg P, Zuchner S, Beetz C. Varga RE, et al. Hum Mutat. 2013 Jun;34(6):860-3. doi: 10.1002/humu.22309. Epub 2013 Apr 5. Hum Mutat. 2013. PMID: 23483706
Still, the more than 50 forms known so far apparently explain less than 80% of cases. The present study identified two large HSP families, which seemed to show an autosomal recessive and an X-linked inheritance pattern. A set of genetic analyses including exome sequ …
Still, the more than 50 forms known so far apparently explain less than 80% of cases. The present study identified two large HSP fami …
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia.
Farazi Fard MA, Rebelo AP, Buglo E, Nemati H, Dastsooz H, Gehweiler I, Reich S, Reichbauer J, Quintáns B, Ordóñez-Ugalde A, Cortese A, Courel S, Abreu L, Powell E, Danzi MC, Martuscelli NB, Bis-Brewer DM, Tao F, Zarei F, Habibzadeh P, Yavarian M, Modarresi F, Silawi M, Tabatabaei Z, Yousefi M, Farpour HR, Kessler C, Mangold E, Kobeleva X, Tournev I, Chamova T, Mueller AJ, Haack TB, Tarnopolsky M, Gan-Or Z, Rouleau GA, Synofzik M, Sobrido MJ, Jordanova A, Schüle R, Zuchner S, Faghihi MA. Farazi Fard MA, et al. Am J Hum Genet. 2019 Apr 4;104(4):767-773. doi: 10.1016/j.ajhg.2019.03.001. Epub 2019 Mar 28. Am J Hum Genet. 2019. PMID: 30929741 Free PMC article.
Many novel Mendelian genes have only been identified in a few families worldwide. Here we report the identification of an autosomal-dominant gene for hereditary spastic paraplegia (HSP) in 10 families that are of diverse geographic origin and whose aff …
Many novel Mendelian genes have only been identified in a few families worldwide. Here we report the identification of an autosomal- …
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A. Dürr A, et al. Arch Neurol. 2004 Dec;61(12):1867-72. doi: 10.1001/archneur.61.12.1867. Arch Neurol. 2004. PMID: 15596607
The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. Atlastin1 mutations have been identified in 8 families so far. OBJECTIVES: To determine the relative frequency, phenotype, and mutation spec …
The atlastin1 gene has recently been implicated in SPG3A, a form of autosomal dominant pure spastic paraplegia. …
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, Riess O, Schöls L, Bauer P. Schlipf NA, et al. Clin Genet. 2011 Aug;80(2):148-60. doi: 10.1111/j.1399-0004.2011.01715.x. Epub 2011 Jun 13. Clin Genet. 2011. PMID: 21623769
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity and weakness. ...A sample of 187 index cases with apparently sporadic or recessive spastic paraplegia were analyzed by applying …
Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder defined clinically by progressive lower limb spasticity an …
24 results