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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.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (AR) HCA …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia t …
More than ataxia - Movement disorders in ataxia-telangiectasia.
Teive HAG, Camargo CHF, Munhoz RP. Teive HAG, et al. Parkinsonism Relat Disord. 2018 Jan;46:3-8. doi: 10.1016/j.parkreldis.2017.12.009. Epub 2017 Dec 12. Parkinsonism Relat Disord. 2018. PMID: 29249681 Review.
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressive neurological dysfunction, multisystem abnormalities and cancer predisposition. Classically, AT is associated with cerebellar ataxia …
Ataxia-telangiectasia (AT) is a rare autosomal recessive neurodegenerative disease caused by mutations in the ATM gene with progressi …
The electrophysiology of spinocerebellar ataxias.
Liang L, Chen T, Wu Y. Liang L, et al. Neurophysiol Clin. 2016 Feb;46(1):27-34. doi: 10.1016/j.neucli.2015.12.006. Epub 2016 Mar 2. Neurophysiol Clin. 2016. PMID: 26947625 Review.
Spinocerebellar Ataxias (SCAs) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebellum and the brainstem. ...
Spinocerebellar Ataxias (SCAs) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebel …
Between Order and Chaos: Understanding the Mechanism and Pathology of RAN Translation.
Reyes CJF, Asano K. Reyes CJF, et al. Biol Pharm Bull. 2023;46(2):139-146. doi: 10.1248/bpb.b22-00448. Biol Pharm Bull. 2023. PMID: 36724941 Free article. Review.
Repeat-associated non-AUG (RAN) translation is a pathogenic mechanism in which repetitive sequences are translated into aggregation-prone proteins from multiple reading frames, even without a canonical AUG start codon. Since its discovery in spinocerebellar ataxia t …
Repeat-associated non-AUG (RAN) translation is a pathogenic mechanism in which repetitive sequences are translated into aggregation-prone pr …
Genotype-Phenotype Correlations for ATX-TBP (SCA17): MDSGene Systematic Review.
Rossi M, Hamed M, Rodríguez-Antigüedad J, Cornejo-Olivas M, Breza M, Lohmann K, Klein C, Rajalingam R, Marras C, van de Warrenburg BP. Rossi M, et al. Mov Disord. 2023 Mar;38(3):368-377. doi: 10.1002/mds.29278. Epub 2022 Nov 14. Mov Disord. 2023. PMID: 36374860 Review.
Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneity. ...Pure parkinsonism was more common in ATX-TBP patients with 41 to 45 repeats than in the group with 46 repeats, which conversely …
Spinocerebellar ataxia type 17 or ATX-TBP is a CAG/CAA repeat expansion disorder characterized by marked clinical heterogeneit …
Tremor-spectrum in spinocerebellar ataxia type 3.
Bonnet C, Apartis E, Anheim M, Legrand AP, Baizabal-Carvallo JF, Bonnet AM, Durr A, Vidailhet M. Bonnet C, et al. J Neurol. 2012 Nov;259(11):2460-70. doi: 10.1007/s00415-012-6531-5. Epub 2012 May 17. J Neurol. 2012. PMID: 22592286 Review.
Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. ...
Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramida …
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
Gatti M, Magri S, Di Bella D, Sarto E, Taroni F, Mariotti C, Nanetti L. Gatti M, et al. Neurol Sci. 2021 Nov;42(11):4741-4745. doi: 10.1007/s10072-021-05463-0. Epub 2021 Jul 12. Neurol Sci. 2021. PMID: 34251556 Review.
INTRODUCTION: Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutations in the non-lysosomal glucosylceramidase beta2 (GBA2) gene. ...The patient presented unsteady gait at age 2, and progressively manifested spasti …
INTRODUCTION: Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutations in …
Neurodegeneration in ataxia-telangiectasia: Multiple roles of ATM kinase in cellular homeostasis.
Choy KR, Watters DJ. Choy KR, et al. Dev Dyn. 2018 Jan;247(1):33-46. doi: 10.1002/dvdy.24522. Epub 2017 Jun 5. Dev Dyn. 2018. PMID: 28543935 Free article. Review.
Ataxia-telangiectasia (A-T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency, and increased sensitivity to ionizing radiation. ...This review will examine the expanding roles of ATM in cellular homeostasis and relate these functions to the com …
Ataxia-telangiectasia (A-T) is characterized by neuronal degeneration, cancer, diabetes, immune deficiency, and increased sensitivity …
Primary skin fibroblasts as a model of Parkinson's disease.
Auburger G, Klinkenberg M, Drost J, Marcus K, Morales-Gordo B, Kunz WS, Brandt U, Broccoli V, Reichmann H, Gispert S, Jendrach M. Auburger G, et al. Mol Neurobiol. 2012 Aug;46(1):20-7. doi: 10.1007/s12035-012-8245-1. Epub 2012 Feb 19. Mol Neurobiol. 2012. PMID: 22350618 Free PMC article. Review.
Fibroblasts from patients with PARK2, PARK6, idiopathic Parkinson's disease, Alzheimer's disease, and spinocerebellar ataxia type 2 demonstrated a distinct and unique mRNA expression pattern of key genes in neurodegeneration. ...
Fibroblasts from patients with PARK2, PARK6, idiopathic Parkinson's disease, Alzheimer's disease, and spinocerebellar ataxia t …
Cancer in ataxia-telangiectasia patients.
Hecht F, Hecht BK. Hecht F, et al. Cancer Genet Cytogenet. 1990 May;46(1):9-19. doi: 10.1016/0165-4608(90)90003-s. Cancer Genet Cytogenet. 1990. PMID: 2184934 Review.
A gene locus for ataxia-telangiectasia (A-T) is in chromosome region 11q22 to 11q23 and predisposes to cancer. Ataxia-telangiectasia patients appear to have two separate clinical patterns of malignancy. ...
A gene locus for ataxia-telangiectasia (A-T) is in chromosome region 11q22 to 11q23 and predisposes to cancer. Ataxia-telangie …
25 results