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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 15"
Page 1
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- …
Charcot-Marie-Tooth disease and related disorders: an evolving landscape.
Laurá M, Pipis M, Rossor AM, Reilly MM. Laurá M, et al. Curr Opin Neurol. 2019 Oct;32(5):641-650. doi: 10.1097/WCO.0000000000000735. Curr Opin Neurol. 2019. PMID: 31343428 Review.
We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including hereditary spastic paraplegia, hereditary ataxias and mitochondrial diseases and highlight the importance of deep phenoty …
We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including heredi …
Infantile onset ascending hereditary spastic paralysis.
Eltoum A, O'Rourke D, Sharif F. Eltoum A, et al. BMJ Case Rep. 2022 Jan 17;15(1):e240941. doi: 10.1136/bcr-2020-240941. BMJ Case Rep. 2022. PMID: 35039335 Free PMC article.
Examination showed lower limb spasticity.Brain and spinal MRI along with EEG were normal. Serum amino acids revealed hyperprolinemia type 1. Hereditary spastic paraplegia gene panel confirmed a homozygous pathogenic variant in ALS2 gene, confirming a diagnosi …
Examination showed lower limb spasticity.Brain and spinal MRI along with EEG were normal. Serum amino acids revealed hyperprolinemia type 1. …
Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations.
Chen J, Zhao Z, Shen H, Bing Q, Li N, Guo X, Hu J. Chen J, et al. BMC Neurol. 2022 May 16;22(1):180. doi: 10.1186/s12883-022-02708-z. BMC Neurol. 2022. PMID: 35578252 Free PMC article.
BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb spastic paraplegia with highly genetic and clinical heterogeneity. However, the clinical sign of spastic paraplegia …
BACKGROUND: Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases characterized by lower-limb …
Gait evolution in a family with hereditary spastic paraplegia.
Armand S, Turcot K, Bonnefoy-Mazure A, Lascombes P, De Coulon G. Armand S, et al. Eur J Paediatr Neurol. 2015 Jan;19(1):87-92. doi: 10.1016/j.ejpn.2014.08.001. Epub 2014 Aug 30. Eur J Paediatr Neurol. 2015. PMID: 25218933
However, the gait evolution of hereditary spastic paraplegia showing onset symptoms at an early age has been described as stable. Therefore, this study aims to evaluate the walking ability and the influence of treatments on gait evolution in a family with …
However, the gait evolution of hereditary spastic paraplegia showing onset symptoms at an early age has been described …
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
Tang YP, Gong JY, Setchell KDR, Zhang W, Zhao J, Wang JS. Tang YP, et al. BMC Gastroenterol. 2021 Apr 13;21(1):163. doi: 10.1186/s12876-021-01749-x. BMC Gastroenterol. 2021. PMID: 33849447 Free PMC article.
BACKGROUND: Deficiency of oxysterol 7alpha-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic cholestasis and hereditary spastic paraplegia type 5. Most reported patients with CYP7B1 mutations presenting with liver dis …
BACKGROUND: Deficiency of oxysterol 7alpha-hydroxylase, encoded by CYP7B1, is associated with fatal infantile progressive intrahepatic chole …
A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia.
Yu W, Jin H, Deng J, Nan D, Huang Y. Yu W, et al. BMC Med Genet. 2020 Jun 3;21(1):123. doi: 10.1186/s12881-020-01053-7. BMC Med Genet. 2020. PMID: 32493220 Free PMC article.
Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multiple genes or loci. At present, more than 76 disease-causing loci have been identified in hereditary spastic paraplegia p …
Hereditary spastic paraplegia can be inherited in various ways, and all modes of inheritance are associated with multip …
SPTAN1 variants as a potential cause for autosomal recessive hereditary spastic paraplegia.
Leveille E, Estiar MA, Krohn L, Spiegelman D, Dionne-Laporte A, Dupré N, Trempe JF, Rouleau GA, Gan-Or Z. Leveille E, et al. J Hum Genet. 2019 Nov;64(11):1145-1151. doi: 10.1038/s10038-019-0669-2. Epub 2019 Sep 12. J Hum Genet. 2019. PMID: 31515523
More than 80 known or suspected genes/loci have been reported to be involved in hereditary spastic paraplegia (HSP). Genetic and clinical overlap have been reported between HSP and other neurological condition, yet about 50% of HSP patients remain genetically …
More than 80 known or suspected genes/loci have been reported to be involved in hereditary spastic paraplegia (HSP). Ge …
Toe Walking: A Neurological Perspective After Referral From Pediatric Orthopaedic Surgeons.
Haynes KB, Wimberly RL, VanPelt JM, Jo CH, Riccio AI, Delgado MR. Haynes KB, et al. J Pediatr Orthop. 2018 Mar;38(3):152-156. doi: 10.1097/BPO.0000000000001115. J Pediatr Orthop. 2018. PMID: 29309384
Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/108) autism spectrum disorder, 13.9% (15/108) hereditary spastic paraparesis, 8.3% (9/108) attention deficit hyperactivity disor …
Final pathologic diagnoses were: 37% (40/108) previously undiagnosed cerebral palsy (CP), 16.7% (18/108) peripheral neuropathy, 15.7% (17/10 …
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.
Montecchiani C, Pedace L, Lo Giudice T, Casella A, Mearini M, Gaudiello F, Pedroso JL, Terracciano C, Caltagirone C, Massa R, St George-Hyslop PH, Barsottini OG, Kawarai T, Orlacchio A. Montecchiani C, et al. Brain. 2016 Jan;139(Pt 1):73-85. doi: 10.1093/brain/awv320. Epub 2015 Nov 10. Brain. 2016. PMID: 26556829 Free PMC article.
Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum and peripheral axonal neuropathy, and account for 40% of autosomal recessive juvenile amyotrophic lateral sclerosis. …
Mutations in the ALS5/SPG11/KIAA1840 gene are a frequent cause of autosomal recessive hereditary spastic paraplegia wit …
28 results