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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 46"
Page 1
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 …
Dominant optic atrophy.
Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D. Lenaers G, et al. Orphanet J Rare Dis. 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. Orphanet J Rare Dis. 2012. PMID: 22776096 Free PMC article. Review.
About 20% of DOA patients harbour extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progressive external ophthalmoplegia, myopathy, peripheral neuropathy, multiple sclerosis-like illness, spastic paraplegia or catarac …
About 20% of DOA patients harbour extraocular multi-systemic features, including neurosensory hearing loss, or less commonly chronic progres …
A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.
Rydning SL, Dudesek A, Rimmele F, Funke C, Krüger S, Biskup S, Vigeland MD, Hjorthaug HS, Sejersted Y, Tallaksen C, Selmer KK, Kamm C. Rydning SL, et al. Eur J Neurol. 2018 Jul;25(7):943-e71. doi: 10.1111/ene.13625. Epub 2018 Apr 15. Eur J Neurol. 2018. PMID: 29528531
BACKGROUND AND PURPOSE: Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous monogenic disorders. ...Potentially disease-causing variants were confirmed by Sanger sequencing and their functional consequences on protein function were …
BACKGROUND AND PURPOSE: Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous monogenic disorders …
Genotype-phenotype characterisation of long survivors with motor neuron disease in Scotland.
Leighton DJ, Ansari M, Newton J, Parry D, Cleary E, Colville S, Stephenson L, Larraz J, Johnson M, Beswick E, Wong M, Gregory J, Carod Artal J, Davenport R, Duncan C, Morrison I, Smith C, Swingler R, Deary IJ, Porteous M, Aitman TJ, Chandran S, Gorrie GH, Pal S; Lothian Birth Cohorts Group; and the CARE-MND Consortium. Leighton DJ, et al. J Neurol. 2023 Mar;270(3):1702-1712. doi: 10.1007/s00415-022-11505-0. Epub 2022 Dec 14. J Neurol. 2023. PMID: 36515702 Free PMC article.
Significant variants in FIG4, hnRNPA2B1, SETX, SQSTM1, TAF15, and VAPB were detected. 2 individuals had a variant in the SPAST gene suggesting phenotypic overlap with hereditary spastic paraplegia (HSP). No long survivors had pathogenic C9orf72 repeat expansi …
Significant variants in FIG4, hnRNPA2B1, SETX, SQSTM1, TAF15, and VAPB were detected. 2 individuals had a variant in the SPAST gene suggesti …
Clinical features and neurologic progression of hyperargininemia.
Carvalho DR, Brum JM, Speck-Martins CE, Ventura FD, Navarro MM, Coelho KE, Portugal D, Pratesi R. Carvalho DR, et al. Pediatr Neurol. 2012 Jun;46(6):369-74. doi: 10.1016/j.pediatrneurol.2012.03.016. Pediatr Neurol. 2012. PMID: 22633632
Relevant data about the clinical spectrum and natural history of hyperargininemia are detailed. Progressive spastic diplegia constituted the key clinical abnormality in this group, but variability in clinical presentation and progression were evident in our series. ...Feat …
Relevant data about the clinical spectrum and natural history of hyperargininemia are detailed. Progressive spastic diplegia constitu …
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing.
Kumar KR, Wali GM, Kamate M, Wali G, Minoche AE, Puttick C, Pinese M, Gayevskiy V, Dinger ME, Roscioli T, Sue CM, Cowley MJ. Kumar KR, et al. Neurogenetics. 2016 Oct;17(4):265-270. doi: 10.1007/s10048-016-0495-z. Epub 2016 Sep 28. Neurogenetics. 2016. PMID: 27679996 Free PMC article.
We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia (HSP). We obtained a genetic diagnosis in 4/9 (44 %) families within known HSP genes (DDHD2 and CYP2U1), as well as perixosomal biogenesis di …
We performed whole genome sequencing (WGS) in nine families from India with early-onset hereditary spastic paraplegia ( …
Novel deletion of SPAST in a Chinese family with hereditary spastic paraplegia.
Feng Y, Ke X, Zhai M, Xin Q, Gong Y, Liu Q. Feng Y, et al. Singapore Med J. 2013 May;54(5):251-4. doi: 10.11622/smedj.2013102. Singapore Med J. 2013. PMID: 23716148 Free article.
INTRODUCTION: Hereditary spastic paraplegia (HSP) belongs to a large, heterogeneous group of progressive neurodegenerative diseases characterised by progressive lower extremity weakness and spasticity, which is caused by developmental failure or degeneration …
INTRODUCTION: Hereditary spastic paraplegia (HSP) belongs to a large, heterogeneous group of progressive neurodegenerat …
Clinical heterogeneity of autosomal recessive spastic paraplegias: analysis of 106 patients in 46 families.
Coutinho P, Barros J, Zemmouri R, Guimarães J, Alves C, Chorão R, Lourenço E, Ribeiro P, Loureiro JL, Santos JV, Hamri A, Paternotte C, Hazan J, Silva MC, Prud'homme JF, Grid D. Coutinho P, et al. Arch Neurol. 1999 Aug;56(8):943-9. doi: 10.1001/archneur.56.8.943. Arch Neurol. 1999. PMID: 10448799
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. ...Pyramidal …
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by pr …
NIPA1 polyalanine repeat expansions are associated with amyotrophic lateral sclerosis.
Blauw HM, van Rheenen W, Koppers M, Van Damme P, Waibel S, Lemmens R, van Vught PW, Meyer T, Schulte C, Gasser T, Cuppen E, Pasterkamp RJ, Robberecht W, Ludolph AC, Veldink JH, van den Berg LH. Blauw HM, et al. Hum Mol Genet. 2012 Jun 1;21(11):2497-502. doi: 10.1093/hmg/dds064. Epub 2012 Feb 28. Hum Mol Genet. 2012. PMID: 22378146
Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) motor neuron phenotype. ...Our data show that NIPA1 polyalanine repeat expansions are a common risk factor for ALS and modulate disease c …
Mutations in NIPA1 cause Hereditary Spastic Paraplegia type 6, a neurodegenerative disease characterized by an (upper) …
Autosomal dominant hereditary spastic paraplegia: DHPLC-based mutation analysis of SPG4 reveals eleven novel mutations.
Patrono C, Scarano V, Cricchi F, Melone MA, Chiriaco M, Napolitano A, Malandrini A, De Michele G, Petrozzi L, Giraldi C, Santoro L, Servidei S, Casali C, Filla A, Santorelli FM. Patrono C, et al. Hum Mutat. 2005 May;25(5):506. doi: 10.1002/humu.9340. Hum Mutat. 2005. PMID: 15841487
We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hereditary spastic paraplegia (AD-HSP) for mutations in SPG4. Six patients had a complicated form and 49 a pure HSP phenotype. …
We set up a new denaturing high-performance liquid chromatography (DHPLC)-based protocol to screen patients with autosomal dominant hered …
11 results