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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 77"
Page 1
Genome-wide Analyses Identify KIF5A as a Novel ALS Gene.
Nicolas A, Kenna KP, Renton AE, Ticozzi N, Faghri F, Chia R, Dominov JA, Kenna BJ, Nalls MA, Keagle P, Rivera AM, van Rheenen W, Murphy NA, van Vugt JJFA, Geiger JT, Van der Spek RA, Pliner HA, Shankaracharya, Smith BN, Marangi G, Topp SD, Abramzon Y, Gkazi AS, Eicher JD, Kenna A; ITALSGEN Consortium; Mora G, Calvo A, Mazzini L, Riva N, Mandrioli J, Caponnetto C, Battistini S, Volanti P, La Bella V, Conforti FL, Borghero G, Messina S, Simone IL, Trojsi F, Salvi F, Logullo FO, D'Alfonso S, Corrado L, Capasso M, Ferrucci L; Genomic Translation for ALS Care (GTAC) Consortium; Moreno CAM, Kamalakaran S, Goldstein DB; ALS Sequencing Consortium; Gitler AD, Harris T, Myers RM; NYGC ALS Consortium; Phatnani H, Musunuri RL, Evani US, Abhyankar A, Zody MC; Answer ALS Foundation; Kaye J, Finkbeiner S, Wyman SK, LeNail A, Lima L, Fraenkel E, Svendsen CN, Thompson LM, Van Eyk JE, Berry JD, Miller TM, Kolb SJ, Cudkowicz M, Baxi E; Clinical Research in ALS and Related Disorders for Therapeutic Development (CReATe) Consortium; Benatar M, Taylor JP, Rampersaud E, Wu G, Wuu J; SLAGEN Consortium; Lauria G, Verde F, Fogh I, Tiloca C, Comi GP, Sorarù G, Cereda C; French ALS Consortium; Corcia P, Laaks… See abstract for full author list ➔ Nicolas A, et al. Neuron. 2018 Mar 21;97(6):1267-1288. doi: 10.1016/j.neuron.2018.02.027. Neuron. 2018. PMID: 29566793 Free PMC article.
Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: hereditary spastic paraplegia (SPG10) and Charcot-Marie-Tooth type 2 (CMT2). ...
Interestingly, mutations predominantly in the N-terminal motor domain of KIF5A are causative for two neurodegenerative diseases: heredita …
Spastic paraplegia-paraparesis. A reappraisal.
Ungar-Sargon JY, Lovelace RE, Brust JC. Ungar-Sargon JY, et al. J Neurol Sci. 1980 Apr;46(1):1-12. doi: 10.1016/0022-510x(80)90039-8. J Neurol Sci. 1980. PMID: 6154777
During a 16-year period 672 patients were admitted to the Columbia Presbyterian Medical Center with spastic paraplegia-paraparesis (SPP) as a prominent finding. Group I. 520 patients (77.3%) had either a familial disorder, sensory findings, other neurological …
During a 16-year period 672 patients were admitted to the Columbia Presbyterian Medical Center with spastic paraplegia-parapar …
Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.
Giannoccaro MP, Matteo E, Bartiromo F, Tonon C, Santorelli FM, Liguori R, Rizzo G. Giannoccaro MP, et al. Neurol Sci. 2022 Sep;43(9):5501-5511. doi: 10.1007/s10072-022-06145-1. Epub 2022 May 21. Neurol Sci. 2022. PMID: 35595875
INTRODUCTION: An increasing number of cases of comorbid hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) have been described. ...Oligoclonal bands were found in 6/8 (75%) patients. Seven patients (77.7%) improved/stabilized on immunother …
INTRODUCTION: An increasing number of cases of comorbid hereditary spastic paraplegia (HSP) and multiple sclerosis (MS) …
Iron-sensitive MR imaging of the primary motor cortex to differentiate hereditary spastic paraplegia from other motor neuron diseases.
Cosottini M, Donatelli G, Ricca I, Bianchi F, Frosini D, Montano V, Migaleddu G, Del Prete E, Tessa A, Cecchi P, D'Amelio C, Siciliano G, Mancuso M, Santorelli FM. Cosottini M, et al. Eur Radiol. 2022 Dec;32(12):8058-8064. doi: 10.1007/s00330-022-08865-6. Epub 2022 May 20. Eur Radiol. 2022. PMID: 35593959
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative diseases characterised by upper motor neuron (UMN) impairment of the lower limbs. ...
OBJECTIVES: Hereditary spastic paraplegia (HSP) is a group of genetic neurodegenerative diseases characterised by upper …
"Ears of the Lynx" MRI Sign Is Associated with SPG11 and SPG15 Hereditary Spastic Paraplegia.
Pascual B, de Bot ST, Daniels MR, França MC Jr, Toro C, Riverol M, Hedera P, Bassi MT, Bresolin N, van de Warrenburg BP, Kremer B, Nicolai J, Charles P, Xu J, Singh S, Patronas NJ, Fung SH, Gregory MD, Masdeu JC. Pascual B, et al. AJNR Am J Neuroradiol. 2019 Jan;40(1):199-203. doi: 10.3174/ajnr.A5935. Epub 2019 Jan 3. AJNR Am J Neuroradiol. 2019. PMID: 30606727 Free PMC article.
BACKGROUND AND PURPOSE: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic paraplegia with a thin corpus callosum, mostly associated with mutations in the spatacsin vesicle trafficking associated gene, causing S …
BACKGROUND AND PURPOSE: The "ears of the lynx" MR imaging sign has been described in case reports of hereditary spastic par …
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. ...A history was followed by a semi-structured interview and, in those patients who co …
BACKGROUND: Hereditary spastic paraplegia (HSP) comprises a group of rare neurodegenerative disorders characterised by …
Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with CYP7B1 mutations.
Arnoldi A, Crimella C, Tenderini E, Martinuzzi A, D'Angelo MG, Musumeci O, Toscano A, Scarlato M, Fantin M, Bresolin N, Bassi MT. Arnoldi A, et al. Clin Genet. 2012 Feb;81(2):150-7. doi: 10.1111/j.1399-0004.2011.01624.x. Epub 2011 Jan 31. Clin Genet. 2012. PMID: 21214876
Spastic paraplegia type 5 (SPG5) is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-alpha-hydroxylase, CYP7B1, an enzyme implicated in the cholesterol metabolism. ...We studied in more detail the SPG5-related spectrum of complex pheno …
Spastic paraplegia type 5 (SPG5) is caused by mutations in CYP7B1, a gene encoding the cytochrome P-450 oxysterol 7-alpha-hydr …
Clarification of undiagnosed ataxia using whole-exome sequencing with clinical implications.
Kim M, Kim AR, Kim JS, Park J, Youn J, Ahn JH, Mun JK, Lee C, Kim NS, Kim NKD, Park WY, Cho JW. Kim M, et al. Parkinsonism Relat Disord. 2020 Nov;80:58-64. doi: 10.1016/j.parkreldis.2020.08.040. Epub 2020 Sep 5. Parkinsonism Relat Disord. 2020. PMID: 32961395
BACKGROUND: Hereditary cerebellar ataxias exhibit heterogeneous phenotypes and genotypes. ...Hereditary spastic paraplegia was the most common diagnosis. Adult-onset ataxias and those without family history were frequently encountered. ...
BACKGROUND: Hereditary cerebellar ataxias exhibit heterogeneous phenotypes and genotypes. ...Hereditary spastic para …
Recessive null-allele variants in MAG associated with spastic ataxia, nystagmus, neuropathy, and dystonia.
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J. Zech M, et al. Parkinsonism Relat Disord. 2020 Aug;77:70-75. doi: 10.1016/j.parkreldis.2020.06.027. Epub 2020 Jun 29. Parkinsonism Relat Disord. 2020. PMID: 32629324
INTRODUCTION: The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia type 75. To date, only four families with biallelic missense variants in MAG have been reported. ...
INTRODUCTION: The gene encoding myelin-associated glycoprotein (MAG) has been implicated in autosomal-recessive spastic paraplegia …
Quantifiable evaluation of cerebellar signs in children.
Filipovic Pierucci A, Mariotti C, Panzeri M, Giunti P, Boesch S, Schulz JB, Pandolfo M, Durr A, Tezenas du Montcel S; EFACTS Study Group. Filipovic Pierucci A, et al. Neurology. 2015 Mar 24;84(12):1225-32. doi: 10.1212/WNL.0000000000001403. Epub 2015 Feb 25. Neurology. 2015. PMID: 25716360
METHODS: In this multicenter study, we compared the validated manual device with the new electronic version (n = 46) and analyzed its kinetics in 146 patients with Friedreich ataxia through the EFACTS (European Friedreich's Ataxia Consortium for Translational Studies) network, …
METHODS: In this multicenter study, we compared the validated manual device with the new electronic version (n = 46) and analyzed its kineti …
13 results