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Quoted phrase not found in phrase index: "Spastic paraplegia 52, autosomal recessive"
Page 1
Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec.
Haj Salem I, Beaudin M, Stumpf M, Estiar MA, Côté PO, Brunet F, Gamache PL, Rouleau GA, Mourabit-Amari K, Gan-Or Z, Dupré N. Haj Salem I, et al. Can J Neurol Sci. 2021 Sep;48(5):655-665. doi: 10.1017/cjn.2020.277. Epub 2021 Jan 5. Can J Neurol Sci. 2021. PMID: 33397523
RESULTS: The minimum prevalence of HA in Eastern Quebec was estimated at 6.47/100 000 [95% CI; 6.44-6.51]; divided into 3.73/100 000 for autosomal recessive (AR) ataxias and 2.67/100 000 for autosomal dominant (AD) ataxias. The minimum prevalence of HSP was 4 …
RESULTS: The minimum prevalence of HA in Eastern Quebec was estimated at 6.47/100 000 [95% CI; 6.44-6.51]; divided into 3.73/100 000 for …
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
Klebe S, Depienne C, Gerber S, Challe G, Anheim M, Charles P, Fedirko E, Lejeune E, Cottineau J, Brusco A, Dollfus H, Chinnery PF, Mancini C, Ferrer X, Sole G, Destée A, Mayer JM, Fontaine B, de Seze J, Clanet M, Ollagnon E, Busson P, Cazeneuve C, Stevanin G, Kaplan J, Rozet JM, Brice A, Durr A. Klebe S, et al. Brain. 2012 Oct;135(Pt 10):2980-93. doi: 10.1093/brain/aws240. Brain. 2012. PMID: 23065789 Free PMC article.
Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive hereditary spasticity. ...Altogether, these results emphasize the clinical variability associated with SPG7 mutations, ranging from optic neur …
Mutations in the spastic paraplegia 7 (SPG7) gene encoding paraplegin are responsible for autosomal recessive he …
A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34.
Thiffault I, Rioux MF, Tetreault M, Jarry J, Loiselle L, Poirier J, Gros-Louis F, Mathieu J, Vanasse M, Rouleau GA, Bouchard JP, Lesage J, Brais B. Thiffault I, et al. Brain. 2006 Sep;129(Pt 9):2332-40. doi: 10.1093/brain/awl110. Epub 2006 May 3. Brain. 2006. PMID: 16672289
Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families affected by an autosomal recessive spastic ataxia associated with frequent white matter changes. ...The uncovering of th …
Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families a …
The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy.
Racis L, Tessa A, Di Fabio R, Storti E, Agnetti V, Casali C, Santorelli FM, Pugliatti M. Racis L, et al. J Neurol. 2014 Jan;261(1):52-9. doi: 10.1007/s00415-013-7151-4. Epub 2013 Oct 20. J Neurol. 2014. PMID: 24141732
The few epidemiological studies conducted to date on the heterogeneous group of hereditary spastic paraplegias (HSPs) indicate a prevalence of 1.27-12.1 per 100,000. ...Clinical data and pedigree information were recorded and blood samples drawn for genetic testing.Sixty-s …
The few epidemiological studies conducted to date on the heterogeneous group of hereditary spastic paraplegias (HSPs) indicate a prev …
Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
Doi H, Ohba C, Tsurusaki Y, Miyatake S, Miyake N, Saitsu H, Kawamoto Y, Yoshida T, Koyano S, Suzuki Y, Kuroiwa Y, Tanaka F, Matsumoto N. Doi H, et al. Intern Med. 2013;52(14):1629-33. doi: 10.2169/internalmedicine.52.0252. Epub 2013 Jul 15. Intern Med. 2013. PMID: 23857099 Free article.
Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. We herein describe a Japanese patient w …
Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinica …
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.
Ruan WC, Wang J, Yu YL, Che YP, Ding L, Li CX, Wang XD, Li HF. Ruan WC, et al. BMC Med Genet. 2020 Mar 14;21(1):51. doi: 10.1186/s12881-020-0988-3. BMC Med Genet. 2020. PMID: 32171285 Free PMC article.
INTRODUCTION: The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia …
INTRODUCTION: The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins w …
Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.
Bettencourt C, López-Sendón JL, García-Caldentey J, Rizzu P, Bakker IM, Shomroni O, Quintáns B, Dávila JR, Bevova MR, Sobrido MJ, Heutink P, de Yébenes JG. Bettencourt C, et al. Clin Genet. 2014 Feb;85(2):154-8. doi: 10.1111/cge.12133. Epub 2013 Mar 25. Clin Genet. 2014. PMID: 23438842
Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms, for which at least 52 loci and 31 causative genes have been identified. ...The main goal of this study was to explore the usefulnes …
Hereditary spastic paraplegias constitute a heterogeneous group of neurodegenerative diseases encompassing pure and complicated forms …