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Quoted phrase not found in phrase index: "Spinocerebellar ataxia type 32"
Page 1
Clinical and genetic characterization of CACNA1A-related disease.
Lipman AR, Fan X, Shen Y, Chung WK. Lipman AR, et al. Clin Genet. 2022 Oct;102(4):288-295. doi: 10.1111/cge.14180. Epub 2022 Jun 26. Clin Genet. 2022. PMID: 35722745 Free PMC article.
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and spinocerebellar ataxia 6. ...Commonly reported phenotypes include developmental delay/intellectual disability (96%), hemiplegic …
Pathogenic variants in the CACNA1A gene have been associated with episodic ataxia type 2, familial hemiplegic migraine, and …
Prodromal spinocerebellar ataxia type 2: Prospects for early interventions and ethical challenges.
Velázquez-Pérez L, Rodríguez-Labrada R, Laffita-Mesa JM. Velázquez-Pérez L, et al. Mov Disord. 2017 May;32(5):708-718. doi: 10.1002/mds.26969. Epub 2017 Mar 3. Mov Disord. 2017. PMID: 28256108 Review.
The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neuroprotective therapies. Research during the past 3 decades in spinocerebellar ataxia type 2 has revealed a large body o …
The characterization of prodromal stages in neurodegenerative disorders is becoming increasingly important because of the need for early neu …
Progression of Dysphagia in Spinocerebellar Ataxia Type 6.
Isono C, Hirano M, Sakamoto H, Ueno S, Kusunoki S, Nakamura Y. Isono C, et al. Dysphagia. 2017 Jun;32(3):420-426. doi: 10.1007/s00455-016-9771-1. Epub 2017 Jan 2. Dysphagia. 2017. PMID: 28042641
Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellum with a late onset and generally good prognosis. ...The results showed that the gross progression of dysphagia was apparently slow, …
Spinocerebellar ataxia type 6 (SCA6), an autosomal dominant triplet repeat disease, predominantly affects the cerebellu …
Is fatigue an important finding in patients with spinocerebellar ataxia type 10 (SCA10)?
Moro A, Munhoz RP, Camargo CH, Moscovich M, Farah M, Teive HAG. Moro A, et al. J Clin Neurosci. 2020 Jan;71:150-152. doi: 10.1016/j.jocn.2019.08.097. Epub 2019 Sep 17. J Clin Neurosci. 2020. PMID: 31540857
Spinocerebellar ataxia type 10 (SCA10) is a rare dominantly inherited neurodegenerative disorder characterized by cerebellar ataxia, dysarthria, ocular dysmetria, and seizures in some populations. ...Fatigue was evidenced in 32% of SCA10 versus 3.6% fo …
Spinocerebellar ataxia type 10 (SCA10) is a rare dominantly inherited neurodegenerative disorder characterized by cereb …
Quantitative profiling and identification of plasma proteins of spinocerebellar ataxia type 2 patients.
Swarup V, Srivastava AK, Padma MV, Moganty RR. Swarup V, et al. Neurodegener Dis. 2013;12(4):199-206. doi: 10.1159/000346585. Epub 2013 May 31. Neurodegener Dis. 2013. PMID: 23735416
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an autosomal-dominant hereditary ataxia characterized by progressive gait and limb ataxia, dysarthria, slow saccades, neuropathy and dementia. ...OBJECTIVE: In this study, we investigated the b …
BACKGROUND: Spinocerebellar ataxia type 2 (SCA2) is an autosomal-dominant hereditary ataxia characterized by pro …
NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2.
Monte TL, Reckziegel ER, Augustin MC, Silva ASP, Locks-Coelho LD, Barsottini O, Pedroso JL, Vargas FR, Saraiva-Pereira ML, Leotti VB, Jardim LB; Rede Neurogenética. Monte TL, et al. Cerebellum. 2017 Aug;16(4):852-858. doi: 10.1007/s12311-017-0855-8. Cerebellum. 2017. PMID: 28456900
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. ...This study aims to validate the Neurological Examination Score for the assessment of Spinocerebellar Ataxias (NESSCA) to be use …
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. ...T …
PET and MRI detection of early and progressive neurodegeneration in spinocerebellar ataxia type 36.
Aguiar P, Pardo J, Arias M, Quintáns B, Fernández-Prieto M, Martínez-Regueiro R, Pumar JM, Silva-Rodríguez J, Ruibal Á, Sobrido MJ, Cortés J. Aguiar P, et al. Mov Disord. 2017 Feb;32(2):264-273. doi: 10.1002/mds.26854. Epub 2016 Nov 10. Mov Disord. 2017. PMID: 27862279
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosomal-dominant degenerative diseases. ...Clinical motor evaluation was performed through the Scale for the Assessment and Rating of Ataxia …
BACKGROUND: The spinocerebellar ataxias (SCAs) form a clinically, genetically, and pathological heterogeneous group of autosom …
Atypical Phenotype in a Spinocerebellar Ataxia Type 2 Kindred.
Prasad S, Holla VV, Pal PK. Prasad S, et al. Tremor Other Hyperkinet Mov (N Y). 2021 Aug 4;11:32. doi: 10.5334/tohm.639. eCollection 2021. Tremor Other Hyperkinet Mov (N Y). 2021. PMID: 34430069 Free PMC article.
BACKGROUND: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and age at onset. ...CASE REPORT: The phenotype of five genetically proven patients with SCA2 in this report differed from the typical phenotype …
BACKGROUND: Non-ataxic manifestations in autosomal dominant cerebellar ataxias are variable and influenced by CAG repeat length and a …
Estimation of the age at onset in spinocerebellar ataxia type 2 Cuban patients by survival analysis.
Almaguer-Mederos LE, Falcón NS, Almira YR, Zaldivar YG, Almarales DC, Góngora EM, Herrera MP, Batallán KE, Armiñán RR, Manresa MV, Cruz GS, Laffita-Mesa J, Cyuz TM, Chang V, Auburger G, Gispert S, Pérez LV. Almaguer-Mederos LE, et al. Clin Genet. 2010 Aug;78(2):169-74. doi: 10.1111/j.1399-0004.2009.01358.x. Epub 2009 Dec 2. Clin Genet. 2010. PMID: 20095980
Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebellar ataxia type 2. These studies have focused on affected individuals. ...These curves were significantly different (p &l …
Previous studies have investigated the close association that exists between CAG repeat number and the age at onset in SCA2 = spinocerebe …
Neuropathology in classical and variant ataxia-telangiectasia.
Verhagen MM, Martin JJ, van Deuren M, Ceuterick-de Groote C, Weemaes CM, Kremer BH, Taylor MA, Willemsen MA, Lammens M. Verhagen MM, et al. Neuropathology. 2012 Jun;32(3):234-44. doi: 10.1111/j.1440-1789.2011.01263.x. Epub 2011 Oct 24. Neuropathology. 2012. PMID: 22017321
Ataxia-telangiectasia (A-T) is classically characterized by progressive neurodegeneration, oculocutaneous telangiectasia, immunodeficiency and elevated alpha-fetoprotein levels. Some patients, classified as variant A-T, exhibit a milder clinical course. In the latte …
Ataxia-telangiectasia (A-T) is classically characterized by progressive neurodegeneration, oculocutaneous telangiectasia, immunodefic …
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