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
1995 2
1996 1
1998 1
1999 2
2000 2
2003 1
2004 3
2005 1
2006 4
2007 2
2008 3
2009 7
2010 2
2011 5
2012 7
2013 2
2014 4
2015 6
2016 9
2017 2
2018 9
2019 8
2020 8
2021 6
2022 8
2023 6
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

102 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 7"
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 …
Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D. Mo A, et al. Mov Disord. 2022 Dec;37(12):2440-2446. doi: 10.1002/mds.29225. Epub 2022 Sep 14. Mov Disord. 2022. PMID: 36103453 Free PMC article.
BACKGROUND: Familial hereditary spastic paraplegia (HSP)-SPAST (SPG4) typically presents with a pure HSP phenotype. ...Symptom onset was in early childhood (median: 11.0 months, interquartile range: 6.0 months) with significant motor and speech delay, followe …
BACKGROUND: Familial hereditary spastic paraplegia (HSP)-SPAST (SPG4) typically presents with a pure HSP phenotype. ... …
Hereditary spastic paraplegia in Mali: epidemiological and clinical features.
Diarra S, Coulibaly T, Dembélé K, Ngouth N, Cissé L, Diallo SH, Ouologuem M, Diallo S, Coulibaly O, Bagayoko K, Coulibaly D, Simaga A, Sango HA, Traoré M, Jacobson S, Fischbeck KH, Landouré G, Guinto CO; H3Africa consortium. Diarra S, et al. Acta Neurol Belg. 2023 Dec;123(6):2155-2165. doi: 10.1007/s13760-022-02113-w. Epub 2022 Nov 17. Acta Neurol Belg. 2023. PMID: 36396882
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure and complex forms, with spasticity in lower limbs only, or associated with other neurologic and non-neurologic manifestations, respectively. …
BACKGROUND AND PURPOSE: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases divided into pure …
Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L. Cao Y, et al. Mov Disord. 2024 Apr;39(4):651-662. doi: 10.1002/mds.29728. Epub 2024 Jan 31. Mov Disord. 2024. PMID: 38291924
BACKGROUND: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraplegia (HSP) subtypes. However, the clinical and genetic spectrum of HSP due to large fragment deletions/duplications has yet to be fully d …
BACKGROUND: Next-generation sequencing-based molecular assessment has benefited the diagnosis of hereditary spastic paraple …
TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia.
Tábara LC, Al-Salmi F, Maroofian R, Al-Futaisi AM, Al-Murshedi F, Kennedy J, Day JO, Courtin T, Al-Khayat A, Galedari H, Mazaheri N, Protasoni M, Johnson M, Leslie JS, Salter CG, Rawlins LE, Fasham J, Al-Maawali A, Voutsina N, Charles P, Harrold L, Keren B, Kunji ERS, Vona B, Jelodar G, Sedaghat A, Shariati G, Houlden H, Crosby AH, Prudent J, Baple EL. Tábara LC, et al. Brain. 2022 Sep 14;145(9):3095-3107. doi: 10.1093/brain/awac123. Brain. 2022. PMID: 35718349 Free PMC article.
The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. ...Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation …
The hereditary spastic paraplegias (HSP) are among the most genetically diverse of all Mendelian disorders. ...Here, we identi …
Peripheral nerve involvement in hereditary spastic paraplegia characterized by quantitative magnetic resonance neurography.
Jacobi H, Weiler M, Sam G, Heiland S, Hayes JM, Bendszus M, Schüle R, Hayes JC. Jacobi H, et al. Eur J Neurol. 2023 Aug;30(8):2442-2452. doi: 10.1111/ene.15841. Epub 2023 May 26. Eur J Neurol. 2023. PMID: 37154411
BACKGROUND AND OBJECTIVES: Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders. While peripheral nerve involvement is frequent in spastic paraplegia 7 (SPG7), the evidence of peripheral nerve involvement in SPG4 is more cont …
BACKGROUND AND OBJECTIVES: Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders. While peripheral nerve in …
ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.
Schlüter A, Vélez-Santamaría V, Verdura E, Rodríguez-Palmero A, Ruiz M, Fourcade S, Planas-Serra L, Launay N, Guilera C, Martínez JJ, Homedes-Pedret C, Albertí-Aguiló MA, Zulaika M, Martí I, Troncoso M, Tomás-Vila M, Bullich G, García-Pérez MA, Sobrido-Gómez MJ, López-Laso E, Fons C, Del Toro M, Macaya A; HSP/ataxia workgroup; Beltran S, Gutiérrez-Solana LG, Pérez-Jurado LA, Aguilera-Albesa S, de Munain AL, Casasnovas C, Pujol A. Schlüter A, et al. Genome Med. 2023 Sep 7;15(1):68. doi: 10.1186/s13073-023-01214-2. Genome Med. 2023. PMID: 37679823 Free PMC article.
This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real-world series of 135 families affected by hereditary spastic paraplegia (HSP) and/or cerebellar ataxia (CA). RESULTS: Cl …
This algorithm was thoroughly benchmarked using a synthetic patient cohort and was subsequently tested on a heterogeneous prospective, real- …
Hereditary spastic paraplegia: clinical genomics and pharmacogenetic perspectives.
Contino G, Novelli G. Contino G, et al. Expert Opin Pharmacother. 2006 Oct;7(14):1849-56. doi: 10.1517/14656566.7.14.1849. Expert Opin Pharmacother. 2006. PMID: 17020412 Review.
Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degeneration of the corticospinal tract axons, leading to bilateral, symmetrical, slowly-progressive spastic paraparesis, predominantly of the lower extremities. ...Ye …
Hereditary spastic paraplegias (HSPs) are a group of single-gene disorders characterised by degeneration of the corticospinal …
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
Salayev K, Rocca C, Kaiyrzhanov R, Guliyeva U, Guliyeva S, Mursalova A, Rahman F, Anwar N, Zafar F, Jan F, Rana N, Maqbool S; SYNAPS Study Group; QUEEN SQUARE Genomics; Efthymiou S, Houlden H. Salayev K, et al. Eur J Med Genet. 2022 Nov;65(11):104620. doi: 10.1016/j.ejmg.2022.104620. Epub 2022 Sep 16. Eur J Med Genet. 2022. PMID: 36122674
BACKGROUND: Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases that present with weakness and stiffness in the lower limb muscles and lead to progressive neurological decline. ...Our observations will help clinicians observe …
BACKGROUND: Hereditary spastic paraplegias (HSP) are a group of neurodegenerative diseases that present with weakness and stif …
Neuropsychology and MRI correlates of neurodegeneration in SPG11 hereditary spastic paraplegia.
Utz KS, Kohl Z, Marterstock DC, Doerfler A, Winkler J, Schmidt M, Regensburger M. Utz KS, et al. Orphanet J Rare Dis. 2022 Jul 29;17(1):301. doi: 10.1186/s13023-022-02451-1. Orphanet J Rare Dis. 2022. PMID: 35906604 Free PMC article.
BACKGROUND: SPG11-linked hereditary spastic paraplegia is characterized by multisystem neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive spasticity and weakness. ...While thinning of the corpus callosum is a well-known …
BACKGROUND: SPG11-linked hereditary spastic paraplegia is characterized by multisystem neurodegeneration leading to a c …
102 results