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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 49"
Page 1
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegenerative disorders that usually present with progressive gait impairment, often leading to permanent disability. ...The prevalence of autosomal …
BACKGROUND: Hereditary cerebellar ataxias (HCA) and hereditary spastic paraplegias (HSP) are two groups of neurodegener …
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M. Ebrahimi-Fakhari D, et al. Brain. 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. Brain. 2020. PMID: 32979048 Free PMC article.
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E …
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly u …
Defining the progeria phenome.
Worm C, Schambye MER, Mkrtchyan GV, Veviorskiy A, Shneyderman A, Ozerov IV, Zhavoronkov A, Bakula D, Scheibye-Knudsen M. Worm C, et al. Aging (Albany NY). 2024 Feb 9;16(3):2026-2046. doi: 10.18632/aging.205537. Epub 2024 Feb 9. Aging (Albany NY). 2024. PMID: 38345566 Free PMC article.
Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associated with normal aging. ...Furthermore, this allowed us to investigate the correlation of progeroid syndromes and syndromes with various patho …
Progeroid disorders are a heterogenous group of rare and complex hereditary syndromes presenting with pleiotropic phenotypes associat …
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.
Heinrich F, Cordts I, Günther R, Stolte B, Zeller D, Schröter C, Weyen U, Regensburger M, Wolf J, Schneider I, Hermann A, Metelmann M, Kohl Z, Linker RA, Koch JC, Radelfahr F, Schönfelder E, Gardt P, Mohajer-Peseschkian T, Osmanovic A, Klopstock T, Dorst J, Ludolph AC, Schöffski O, Boentert M, Hagenacker T, Deschauer M, Lingor P, Petri S, Schreiber-Katz O. Heinrich F, et al. J Neurol. 2023 Oct;270(10):4922-4938. doi: 10.1007/s00415-023-11811-1. Epub 2023 Jun 25. J Neurol. 2023. PMID: 37356024 Free PMC article.
RESULTS: 404 patients with a diagnosis of Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy (SMA) or Hereditary Spastic Paraplegia (HSP) were enrolled. Total annual costs per patient were estimated at 83,060 in ALS, 206,856 in SMA and 27,074 in HSP …
RESULTS: 404 patients with a diagnosis of Amyotrophic Lateral Sclerosis (ALS), Spinal Muscular Atrophy (SMA) or Hereditary Spastic …
Pathophysiology, diagnostic work-up and management of balance impairments and falls in patients with hereditary spastic paraplegia.
Nonnekes J, van Lith B, van de Warrenburg BP, Weerdesteyn V, Geurts ACH. Nonnekes J, et al. J Rehabil Med. 2017 May 16;49(5):369-377. doi: 10.2340/16501977-2227. J Rehabil Med. 2017. PMID: 28471471 Free article. Review.
INTRODUCTION: Balance impairments are common in patients with hereditary spastic paraplegia and are among the most debilitating symptoms, as they frequently result in falls and fall-related injuries. Several features of hereditary spastic par …
INTRODUCTION: Balance impairments are common in patients with hereditary spastic paraplegia and are among the most debi …
Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia.
Hellberg C, Alinder E, Jaraj D, Puschmann A. Hellberg C, et al. Parkinsonism Relat Disord. 2019 Dec;69:79-84. doi: 10.1016/j.parkreldis.2019.10.028. Epub 2019 Oct 29. Parkinsonism Relat Disord. 2019. PMID: 31706130
OBJECTIVE: To determine the nationwide prevalence of primary dystonia, ataxia and hereditary spastic paraplegia (HSP) in Sweden. METHODS: We extracted data on all patients who were registered in The National Patient Register (NPR) in Sweden (population 9.64 m …
OBJECTIVE: To determine the nationwide prevalence of primary dystonia, ataxia and hereditary spastic paraplegia (HSP) i …
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.
Whole genome sequencing (WGS) was performed and variants within 49 MND-associated genes examined. Each individual was screened for C9orf72 repeat expansions. ...Significant variants in FIG4, hnRNPA2B1, SETX, SQSTM1, TAF15, and VAPB were detected. 2 individuals had a varian …
Whole genome sequencing (WGS) was performed and variants within 49 MND-associated genes examined. Each individual was screened for C9 …
Bladder dysfunction in hereditary spastic paraplegia: what to expect?
Braschinsky M, Zopp I, Kals M, Haldre S, Gross-Paju K. Braschinsky M, et al. J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):263-6. doi: 10.1136/jnnp.2009.180331. Epub 2009 Sep 2. J Neurol Neurosurg Psychiatry. 2010. PMID: 19726407
BACKGROUND: Hereditary spastic paraplegia (HSP) comprises a group of rare neurodegenerative disorders characterised by progressive spasticity and hyperreflexia of the legs. ...The aim of this study was to provide an evidential overview of the ways in which ur …
BACKGROUND: Hereditary spastic paraplegia (HSP) comprises a group of rare neurodegenerative disorders characterised by …
Cerebrospinal Fluid Neurofilaments May Discriminate Upper Motor Neuron Syndromes: A Pilot Study.
Zucchi E, Bedin R, Fasano A, Fini N, Gessani A, Vinceti M, Mandrioli J. Zucchi E, et al. Neurodegener Dis. 2018;18(5-6):255-261. doi: 10.1159/000493986. Epub 2018 Nov 14. Neurodegener Dis. 2018. PMID: 30428468
BACKGROUND: Patients presenting with upper motor neuron (UMN) signs may widely diverge in prognosis, ranging from amyotrophic lateral sclerosis (ALS) to primary lateral sclerosis (PLS) and hereditary spastic paraplegia (hSP). Neurofilaments are emerging as po …
BACKGROUND: Patients presenting with upper motor neuron (UMN) signs may widely diverge in prognosis, ranging from amyotrophic lateral sclero …
Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses.
Ishiura H, Takahashi Y, Hayashi T, Saito K, Furuya H, Watanabe M, Murata M, Suzuki M, Sugiura A, Sawai S, Shibuya K, Ueda N, Ichikawa Y, Kanazawa I, Goto J, Tsuji S. Ishiura H, et al. J Hum Genet. 2014 Mar;59(3):163-72. doi: 10.1038/jhg.2013.139. Epub 2014 Jan 23. J Hum Genet. 2014. PMID: 24451228
Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characterized by progressive spasticity and pyramidal weakness of lower limbs. ...To elucidate molecular epidemiology of HSP in the Japanese populatio …
Hereditary spastic paraplegia (HSP) is one of the most genetically heterogeneous neurodegenerative disorders characteri …
18 results