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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 46"
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.
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 …
Clinical Presentation of Ataxia-Telangiectasia.
Alyasin S, Esmaeilzadeh H, Ebrahimi N, Nabavizadeh SH, Nemati H. Alyasin S, et al. Arch Iran Med. 2019 Dec 1;22(12):682-686. Arch Iran Med. 2019. PMID: 31823618
BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In the present study, patients with ataxia-telangiectasia were followed to provide information regarding clinical and immunological featur …
BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed. In th …
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 …
Complex Ataxia-Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
Nanetti L, Magri S, Fichera M, Castaldo A, Nigri A, Pinardi C, Mongelli A, Sarro L, Pareyson D, Grisoli M, Gellera C, Di Bella D, Mariotti C, Taroni F. Nanetti L, et al. Mov Disord. 2023 Apr;38(4):665-675. doi: 10.1002/mds.29352. Epub 2023 Feb 17. Mov Disord. 2023. PMID: 36799493
BACKGROUND AND OBJECTIVES: Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic heterogeneity. We recently identified a form of SCA transmitted with a digenic pattern of inheritance caused by the concomitant presence of …
BACKGROUND AND OBJECTIVES: Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic …
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 …
Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3.
Faber J, Schaprian T, Berkan K, Reetz K, França MC Jr, de Rezende TJR, Hong J, Liao W, van de Warrenburg B, van Gaalen J, Durr A, Mochel F, Giunti P, Garcia-Moreno H, Schoels L, Hengel H, Synofzik M, Bender B, Oz G, Joers J, de Vries JJ, Kang JS, Timmann-Braun D, Jacobi H, Infante J, Joules R, Romanzetti S, Diedrichsen J, Schmid M, Wolz R, Klockgether T. Faber J, et al. Mov Disord. 2021 Oct;36(10):2273-2281. doi: 10.1002/mds.28610. Epub 2021 May 5. Mov Disord. 2021. PMID: 33951232 Free PMC article.
OBJECTIVE: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar ataxia type 3 in vivo across the entire time course of the disease. ...CONCLUSION: Regional brain and spinal cord tissue loss in …
OBJECTIVE: The objective of this study was to quantify regional brain volumes and upper cervical spinal cord areas in spinocerebellar …
Non-ataxic manifestations of Spinocerebellar ataxia-2, their determinants and predictors.
Stezin A, Venkatesh SD, Thennarasu K, Purushottam M, Jain S, Yadav R, Pal PK. Stezin A, et al. J Neurol Sci. 2018 Nov 15;394:14-18. doi: 10.1016/j.jns.2018.08.024. Epub 2018 Sep 1. J Neurol Sci. 2018. PMID: 30196130

INTRODUCTION: To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and identify their determinants and predictors. ...The CAG repeat length was inversely related to the AAO of symptoms (r = -0.46, p < .00

…
INTRODUCTION: To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and ide …
Otoneurological findings prevalent in hereditary ataxias.
Zeigelboim BS, Teive HAG, Santos GJB, Severiano MIR, Fonseca VR, Faryniuk JH, Marques JM. Zeigelboim BS, et al. Arq Neuropsiquiatr. 2018 Mar;76(3):131-138. doi: 10.1590/0004-282x20180001. Arq Neuropsiquiatr. 2018. PMID: 29809235 Free article.
Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clinical features with the nervous structures affected in this disease. ...Results Clinically, the patients commonly had symptoms of gait disturb …
Objective To describe and compare the vestibular findings most evident among the hereditary ataxias, as well as correlate their clini …
Genetic and clinical analyses of spinocerebellar ataxia type 8 in mainland China.
Zhou Y, Yuan Y, Liu Z, Zeng S, Chen Z, Shen L, Jiang H, Xia K, Tang B, Wang J. Zhou Y, et al. J Neurol. 2019 Dec;266(12):2979-2986. doi: 10.1007/s00415-019-09519-2. Epub 2019 Aug 30. J Neurol. 2019. PMID: 31471687
BACKGROUND: Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repeat expansion in the ATXN8/ATXN8OS gene. ...RESULTS: The CTA/CTG expansion was observed in six probands, accounting for approximately 0.46 …
BACKGROUND: Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repe …
Ophthalmic features of spinocerebellar ataxia type 7.
Campos-Romo A, Graue-Hernandez EO, Pedro-Aguilar L, Hernandez-Camarena JC, Rivera-De la Parra D, Galvez V, Diaz R, Jimenez-Corona A, Fernandez-Ruiz J. Campos-Romo A, et al. Eye (Lond). 2018 Jan;32(1):120-127. doi: 10.1038/eye.2017.135. Epub 2017 Aug 11. Eye (Lond). 2018. PMID: 28799562 Free PMC article.
PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and methodsThis was a case series study. ...Changes in the corneal endothelium, electroretinographic patterns, and a complete neurologic evaluati …
PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and m …
87 results