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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 2"
Page 1
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, Ebrahimi-Fakhari D, Gray SJ. Chen X, et al. J Clin Invest. 2023 May 15;133(10):e164575. doi: 10.1172/JCI164575. J Clin Invest. 2023. PMID: 36951961 Free PMC article.
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function variants in the AP4M1 gene. ...-administered AAV9/AP4M1, supporting an investigational gene transfer clinical trial to treat SPG50. …
Spastic paraplegia 50 (SPG50) is an ultrarare childhood-onset neurological disorder caused by biallelic loss-of-function varia …
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present with lower limb spasticity and muscle weakness due to motor neuron dysfunction. ...
Hereditary spastic paraplegias (HSP) are rare, inherited neurodegenerative or neurodevelopmental disorders that mainly present …
Gait-Adaptability Training in People With Hereditary Spastic Paraplegia: A Randomized Clinical Trial.
van de Venis L, van de Warrenburg B, Weerdesteyn V, Geurts ACH, Nonnekes J. van de Venis L, et al. Neurorehabil Neural Repair. 2023 Jan;37(1):27-36. doi: 10.1177/15459683221147839. Epub 2023 Jan 25. Neurorehabil Neural Repair. 2023. PMID: 36695288 Free PMC article. Clinical Trial.
BACKGROUND AND OBJECTIVES: In people with hereditary spastic paraplegia (HSP), reduced gait adaptability is common and disabling. ...The aim of this study was to assess the efficacy of a 5-week gait-adaptability training in people with pure HSP. METHOD: We co …
BACKGROUND AND OBJECTIVES: In people with hereditary spastic paraplegia (HSP), reduced gait adaptability is common and …
Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia.
van de Pol LA, Burgert N, van Schie PEM, Slot KM, Gouw AA, Buizer AI. van de Pol LA, et al. Childs Nerv Syst. 2024 Mar;40(3):855-861. doi: 10.1007/s00381-023-06159-w. Epub 2023 Oct 3. Childs Nerv Syst. 2024. PMID: 37783799 Free PMC article.
PURPOSE: To provide an overview of outcome and complications of selective dorsal rhizotomy (SDR) and intrathecal baclofen pump implantation (ITB) for spasticity treatment in children with hereditary spastic paraplegia (HSP). METHODS: Retrospective study inclu …
PURPOSE: To provide an overview of outcome and complications of selective dorsal rhizotomy (SDR) and intrathecal baclofen pump implantation …
Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
Lin Q, Liu Y, Ye Z, Hu J, Cai W, Weng Q, Chen WJ, Wang N, Cao D, Lin Y, Fu Y. Lin Q, et al. Orphanet J Rare Dis. 2021 Sep 19;16(1):391. doi: 10.1186/s13023-021-02014-w. Orphanet J Rare Dis. 2021. PMID: 34538260 Free PMC article.
BACKGROUND: Aim to identify potential biomarkers to assess therapeutic efficacy for hereditary spastic paraplegias type 5 (SPG5) by investigating the clinical, cerebrospinal fluid (CSF) and magnetic resonance imaging (MRI) features. ...Our finding supports th …
BACKGROUND: Aim to identify potential biomarkers to assess therapeutic efficacy for hereditary spastic paraplegias type 5 (SPG …
Chinese patients with hereditary spastic paraplegias (HSPs): a protocol for a hospital-based cohort study.
Qiu YS, Zeng YH, Yuan RY, Ye ZX, Bi J, Lin XH, Chen YJ, Wang MW, Liu Y, Yao SB, Chen YK, Jiang JY, Lin Y, Lin X, Wang N, Fu Y, Chen WJ. Qiu YS, et al. BMJ Open. 2022 Jan 11;12(1):e054011. doi: 10.1136/bmjopen-2021-054011. BMJ Open. 2022. PMID: 35017251 Free PMC article.
INTRODUCTION: Hereditary spastic paraplegias (HSPs) are uncommon but not rare neurodegenerative diseases. More than 100 pathogenic genes and loci related to spastic paraplegia symptoms have been reported. HSPs have the same core clinical feature …
INTRODUCTION: Hereditary spastic paraplegias (HSPs) are uncommon but not rare neurodegenerative diseases. More than 100 pathog …
Randomized Trial of Botulinum Toxin Type A in Hereditary Spastic Paraplegia - The SPASTOX Trial.
Diniz de Lima F, Faber I, Servelhere KR, Bittar MFR, Martinez ARM, Piovesana LG, Martins MP, Martins CR Jr, Benaglia T, de Sá Carvalho B, Nucci A, França MC Jr. Diniz de Lima F, et al. Mov Disord. 2021 Jul;36(7):1654-1663. doi: 10.1002/mds.28523. Epub 2021 Feb 17. Mov Disord. 2021. PMID: 33595142 Clinical Trial.
BACKGROUND: Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. ...The objective of the current study was to evaluate the efficacy and safety of BoNT-A in patients with …
BACKGROUND: Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait …
Intrathecal baclofen therapy for the symptomatic treatment of hereditary spastic paraplegia.
Margetis K, Korfias S, Boutos N, Gatzonis S, Themistocleous M, Siatouni A, Dalivigka Z, Flaskas T, Stranjalis G, Boviatsis E, Sakas D. Margetis K, et al. Clin Neurol Neurosurg. 2014 Aug;123:142-5. doi: 10.1016/j.clineuro.2014.05.024. Epub 2014 Jun 4. Clin Neurol Neurosurg. 2014. PMID: 24973568 Clinical Trial.
OBJECTIVE: We study the effectiveness and safety of intrathecal baclofen therapy for the treatment of spasticity and gait improvement in patients suffering from hereditary spastic paraplegia. METHODS: Sixteen patients diagnosed with hereditary spast …
OBJECTIVE: We study the effectiveness and safety of intrathecal baclofen therapy for the treatment of spasticity and gait improvement in pat …
A network biology approach to unraveling inherited axonopathies.
Bis-Brewer DM, Danzi MC, Wuchty S, Züchner S. Bis-Brewer DM, et al. Sci Rep. 2019 Feb 8;9(1):1692. doi: 10.1038/s41598-018-37119-z. Sci Rep. 2019. PMID: 30737464 Free PMC article.
Progressive axonal degeneration can lead to both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia (HSP) depending on the affected neurons: peripheral motor and sensory nerves or central nervous system axons of the corticospinal tract …
Progressive axonal degeneration can lead to both Charcot-Marie-Tooth type 2 (CMT2) and Hereditary Spastic Paraplegia …
Visual inspection methods for cervical cancer prevention.
Sankaranarayanan R, Nessa A, Esmy PO, Dangou JM. Sankaranarayanan R, et al. Best Pract Res Clin Obstet Gynaecol. 2012 Apr;26(2):221-32. doi: 10.1016/j.bpobgyn.2011.08.003. Epub 2011 Nov 9. Best Pract Res Clin Obstet Gynaecol. 2012. PMID: 22075441 Review.
Pooled sensitivity, specificity, positive and negative predictive values were 80%, 92%, 10% and 99%, respectively, for detecting cervical intraepithelial neoplasia grade 2 or worse lesions. Realistic sensitivity of a quality- assured single visual inspection with acetic ac …
Pooled sensitivity, specificity, positive and negative predictive values were 80%, 92%, 10% and 99%, respectively, for detecting cervical in …
35 results