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Quoted phrase not found in phrase index: "Hereditary spastic paraplegia 50"
Page 1
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia.
Méreaux JL, Banneau G, Papin M, Coarelli G, Valter R, Raymond L, Kol B, Ariste O, Parodi L, Tissier L, Mairey M, Ait Said S, Gautier C, Guillaud-Bataille M; French SPATAX clinical network; Forlani S, de la Grange P, Brice A, Vazza G, Durr A, Leguern E, Stevanin G. Méreaux JL, et al. Brain. 2022 Apr 29;145(3):1029-1037. doi: 10.1093/brain/awab386. Brain. 2022. PMID: 34983064 Free article.
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spasticity due to length-dependent damage to the upper motor neuron is a core sign. ...We report here the clinical and genetic results of 1550 …
Hereditary spastic paraplegia refers to rare genetic neurodevelopmental and/or neurodegenerative disorders in which spa …
Neuro-Ophthalmic Phenotype of OPA3.
Huna-Baron R, Yahalom G, Anikster Y, Ben Zeev B, Hoffmann C, Hassin-Baer S. Huna-Baron R, et al. J Neuroophthalmol. 2022 Mar 1;42(1):e147-e152. doi: 10.1097/WNO.0000000000001249. Epub 2021 Apr 14. J Neuroophthalmol. 2022. PMID: 33870938
Average retinal thinning was identified at second and third decades of life, possibly resulting from early ganglion cell loss. These results may contribute to visual prognosis, and OCT may help monitor experimental therapies....
Average retinal thinning was identified at second and third decades of life, possibly resulting from early ganglion cell loss. These results …
Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal.
Silva MC, Coutinho P, Pinheiro CD, Neves JM, Serrano P. Silva MC, et al. J Clin Epidemiol. 1997 Dec;50(12):1377-84. doi: 10.1016/s0895-4356(97)00202-3. J Clin Epidemiol. 1997. PMID: 9449941
A project for studying the prevalence of hereditary ataxias (HA) and familial spastic paraplegias (FSP) in Portugal was set up in 1993. ...This method provided a direct estimate of false positives and false negatives were all patients also examined in phase 2, who c …
A project for studying the prevalence of hereditary ataxias (HA) and familial spastic paraplegias (FSP) in Portugal was set up …
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 …
A novel loss of function mutation in adaptor protein complex 4, subunit mu-1 causing autosomal recessive spastic paraplegia 50.
Bellad A, Girimaji SC, Muthusamy B. Bellad A, et al. Neurol Sci. 2021 Dec;42(12):5311-5319. doi: 10.1007/s10072-021-05262-7. Epub 2021 Apr 21. Neurol Sci. 2021. PMID: 33884525
BACKGROUND: Spastic paraplegia 50 (SPG50) is a rare autosomal recessive inherited disorder characterized by spasticity, severe intellectual disability and delayed or absent speech. ...CONCLUSION: Insertion of these eight nucleotides in the AP4M1 gene is predicted …
BACKGROUND: Spastic paraplegia 50 (SPG50) is a rare autosomal recessive inherited disorder characterized by spasticity, severe …
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.
The low reproducibility and wide variation in accuracy reflect the subjective nature of the test. Pooled sensitivity, specificity, positive and negative predictive values were 80%, 92%, 10% and 99%, respectively, for detecting cervical intraepithelial neoplasia grade 2 or …
The low reproducibility and wide variation in accuracy reflect the subjective nature of the test. Pooled sensitivity, specificity, positive …
Hereditary ataxias: epidemiological aspects.
Werdelin L, Keiding N. Werdelin L, et al. Neuroepidemiology. 1990;9(6):321-31. doi: 10.1159/000110795. Neuroepidemiology. 1990. PMID: 2096315
Hereditary ataxias, hereditary spastic paraplegia and Charcot-Marie-Tooth syndrome (HA) are chronic progressive neurological diseases. ...
Hereditary ataxias, hereditary spastic paraplegia and Charcot-Marie-Tooth syndrome (HA) are chronic progressive …
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E; Group for the Study of the Genetics of Spastic Paraplegia. Alvarez V, et al. BMC Neurol. 2010 Oct 8;10:89. doi: 10.1186/1471-2377-10-89. BMC Neurol. 2010. PMID: 20932283 Free PMC article.
BACKGROUND: Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. ...In addition to large deletions, splicing, frameshifting, and missense mutations, we also found a nucleotide change in the stop codon that …
BACKGROUND: Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. …
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up.
Galvão CRC, Cavalcante PMA, Olinda R, Graciani Z, Zatz M, Kok F, Santos S, Lancman S. Galvão CRC, et al. BMC Neurol. 2019 Oct 27;19(1):256. doi: 10.1186/s12883-019-1465-5. BMC Neurol. 2019. PMID: 31656170 Free PMC article.
BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approximately 70 cases recorded in Brazil and Egypt. ...The greatest losses occurred from ages 35 to 41, and starting at 50, practically all patients …
BACKGROUND: Spastic paraplegia, optic atrophy and neuropathy (Spoan syndrome) is an autosomal recessive disease with approxima …
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 …
19 results