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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 29"
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Hereditary spastic paraplegia: Genetic heterogeneity and common pathways.
Panza E, Meyyazhagan A, Orlacchio A. Panza E, et al. Exp Neurol. 2022 Nov;357:114203. doi: 10.1016/j.expneurol.2022.114203. Epub 2022 Aug 13. Exp Neurol. 2022. PMID: 35970204 Review.
Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and weakness of the lower limbs resulting from distal degeneration of corticospinal tract axons. ...Notwithstanding the number of forms describ …
Hereditary Spastic Paraplegias (HSPs) are a heterogeneous group of disease, mainly characterized by progressive spasticity and …
Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.
Ortega Suero G, Abenza Abildúa MJ, Serrano Munuera C, Rouco Axpe I, Arpa Gutiérrez FJ, Adarmes Gómez AD, Rodríguez de Rivera FJ, Quintans Castro B, Posada Rodríguez I, Vadillo Bermejo A, Domingo Santos Á, Blanco Vicente E, Infante Ceberio I, Pardo Fernández J, Costa Arpín E, Painous Martí C, Muñoz García JE, Mir Rivera P, Montón Álvarez F, Bataller Alberola L, Gascón Bayarri J, Casasnovas Pons C, Vélez Santamaría V, López de Munain A, Fernández-Eulate G, Gazulla Abío J, Sanz Gallego I, Rojas Bartolomé L, Ayo Martín Ó, Segura Martín T, González Mingot C, Baraldés Rovira M, Sivera Mascaró R, Cubo Delgado E, Echavarría Íñiguez A, Vázquez Sánchez F, Bártulos Iglesias M, Casadevall Codina MT, Martínez Fernández EM, Labandeira Guerra C, Alemany Perna B, Carvajal Hernández A, Fernández Moreno C, Palacín Larroy M, Caballol Pons N, Ávila Rivera A, Navacerrada Barrero FJ, Lobato Rodríguez R, Sobrido Gómez MJ. Ortega Suero G, et al. Neurologia (Engl Ed). 2023 Jul-Aug;38(6):379-386. doi: 10.1016/j.nrleng.2023.04.003. Epub 2023 Apr 28. Neurologia (Engl Ed). 2023. PMID: 37120112 Free article.
INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. ...The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic …
INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. ...The genetic defect was …
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia.
Perić S, Marković V, Candayan A, De Vriendt E, Momčilović N, Savić A, Dragašević-Mišković N, Svetel M, Stević Z, Božović I, Mesaroš Š, Drulović J, Basta I, Petrović I, Tamaš O, Mijajlović M, Novaković I, Sokić D, Jordanova A. Perić S, et al. Cells. 2022 Sep 8;11(18):2804. doi: 10.3390/cells11182804. Cells. 2022. PMID: 36139378 Free PMC article.
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. ...A copy number variation (CNV) test for SPAST, SPG7, and SPG11 was also performed. Twenty-three patients from 19 families (29.2%) had conclusive gene …
Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. ...A copy number v …
Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes.
Servelhere KR, Rezende TJR, de Lima FD, de Brito MR, de França Nunes RF, Casseb RF, Pedroso JL, Barsottini OGP, Cendes F, França MC Jr. Servelhere KR, et al. Mov Disord. 2021 Jul;36(7):1644-1653. doi: 10.1002/mds.28519. Epub 2021 Feb 11. Mov Disord. 2021. PMID: 33576112
BACKGROUND: Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting evidence indicates that the brain is also affected. ...OBJECTIVE: We aimed to characterize cerebral and cerebellar damage in five HSP subtype …
BACKGROUND: Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting e …
Bladder dysfunction in hereditary spastic paraplegia: a clinical and urodynamic evaluation.
Fourtassi M, Jacquin-Courtois S, Scheiber-Nogueira MC, Hajjioui A, Luaute J, Charvier K, Maucort-Boulch D, Rode G. Fourtassi M, et al. Spinal Cord. 2012 Jul;50(7):558-62. doi: 10.1038/sc.2011.193. Epub 2012 Jan 31. Spinal Cord. 2012. PMID: 22289900
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a degenerative central nervous system disorder characterized by progressive spasticity and hyperreflexia of the lower limbs. ...These results may guide practitioners in their decision-making about the appropr …
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a degenerative central nervous system disorder characterized by prog …
Hereditary and idiopathic spastic paraparesis: preliminary findings of a single center experience.
Cui F, Sun L, Qiao J, Xiong J, Zhao Y, Li J, Li M, Chen S, Huang X. Cui F, et al. Neurol Res. 2018 Dec;40(12):1088-1093. doi: 10.1080/01616412.2018.1522412. Neurol Res. 2018. PMID: 30352018
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified clinical manifestations. ...The mean disease duration was 13.46 12.82 years (range: 1-63). There were 29 pure (51.8%) forms and 27 com …
OBJECTIVES: Hereditary spastic paraplegias (HSP) is a heterogeneous group of inherited neurologic disorders with diversified c …
Hereditary spastic paraplegia: a clinical and epidemiological study of a Brazilian pediatric population.
Ortega RPM, Rosemberg S. Ortega RPM, et al. Arq Neuropsiquiatr. 2019 Jan;77(1):10-18. doi: 10.1590/0004-282X20180153. Arq Neuropsiquiatr. 2019. PMID: 30758437 Free article.
AIMS: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample. ...The MRI abnormalities included nonspecific white matter lesions, cerebellar atrophy, thinning of the corpus callosum and the "ear of the lynx sign". CONCLUSIONS: In c …
AIMS: To investigate hereditary spastic paraplegia (HSP) in a pediatric Brazilian sample. ...The MRI abnormalities incl …
Improved gait speed in spastic paraplegia: a new modality.
Shin S, Park J, Hong J, Park JH. Shin S, et al. BMJ Support Palliat Care. 2020 Dec;10(4):e41. doi: 10.1136/bmjspcare-2018-001738. Epub 2019 Jun 14. BMJ Support Palliat Care. 2020. PMID: 31201153
OBJECTIVES: The gait disturbance in spastic paraplegic patients lowers the gait speed, increases fall risk and eventually lower the quality of life. ...Patients with spastic paraplegia (N=5) were participated, including spinal cord tumour (N=2), cervical myel …
OBJECTIVES: The gait disturbance in spastic paraplegic patients lowers the gait speed, increases fall risk and eventually lower the q …
Mitochondrial myopathies and encephalomyopathies.
Schapira AH, Cock HR. Schapira AH, et al. Eur J Clin Invest. 1999 Oct;29(10):886-98. doi: 10.1046/j.1365-2362.1999.00540.x. Eur J Clin Invest. 1999. PMID: 10583431 Review.
There is now strong evidence for mitochondrial dysfunction in neurodegenerative disorders. In some cases, e.g. Friedreich's ataxia, hereditary spastic paraplegia, this is a result of a mutation of a nuclear gene encoding a mitochondrial protein, whilst in oth …
There is now strong evidence for mitochondrial dysfunction in neurodegenerative disorders. In some cases, e.g. Friedreich's ataxia, hered …
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement.
Van Daele SH, Moisse M, Race V, Van Eesbeeck A, Keldermans L, Vermeer S, Van Esch H, Claeys KG, Van Damme P. Van Daele SH, et al. Eur J Neurol. 2022 Jan;29(1):345-349. doi: 10.1111/ene.15091. Epub 2021 Sep 17. Eur J Neurol. 2022. PMID: 34469621 Free PMC article.
BACKGROUND: Although hereditary ataxias are a group of clinically and genetically heterogeneous disorders, specific clinical clues can sometimes incriminate certain genes. ...Unlike the distinctive bi-allelic loss of function variants in RNF170 associated with hereditar …
BACKGROUND: Although hereditary ataxias are a group of clinically and genetically heterogeneous disorders, specific clinical clues ca …
32 results