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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 46"
Page 1
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. ...Thirteen patients (72.22%) were from families with consanguinity. Ataxia was the most common clinical feature, observed i …
BACKGROUND: Ataxia-telangiectasia is a multi-system disorder in which neurologic impairment and immune deficiency are observed …
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. ...CONCLUSIONS: The identification of the complex SCA(TBP/STUB1) phenotype may impact on diagnosis and genetic counseling in …
BACKGROUND AND OBJECTIVES: Spinocerebellar ataxias (SCAs) are autosomal dominant disorders with extensive clinical and genetic …
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 …
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. ...Based on the presence or absence of non-ataxic manifestations, patients were classified i …
INTRODUCTION: To evaluate the non-ataxic clinical manifestations in genetically proven Spinocerebellar ataxia 2 (SCA2) and ide …
Natural history of most common spinocerebellar ataxia: a systematic review and meta-analysis.
Diallo A, Jacobi H, Tezenas du Montcel S, Klockgether T. Diallo A, et al. J Neurol. 2021 Aug;268(8):2749-2756. doi: 10.1007/s00415-020-09815-2. Epub 2020 Apr 7. J Neurol. 2021. PMID: 32266540
BACKGROUND: Spinocerebellar ataxias (SCAs) are rare dominantly inherited neurodegenerative disorders that lead to severe disability and premature death. ...CONCLUSION: This meta-analysis provides quantitative data on the progression of the most common spinocerebe …
BACKGROUND: Spinocerebellar ataxias (SCAs) are rare dominantly inherited neurodegenerative disorders that lead to severe disab …
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. ...Positive samples were validated by southern blotting. RESULTS: The CTA/CTG expansion was obser …
BACKGROUND: Spinocerebellar ataxia type 8 (SCA8) is a rare autosomal dominant neurodegenerative disease caused by CTA/CTG repe …
First families with spinocerebellar ataxia type 7 in Poland.
Dulski J, Al-Shaikh RH, Prudencio M, Petrucelli L, Sulek A, Bernatowicz K, Sławek J, Wszolek ZK. Dulski J, et al. Neurol Neurochir Pol. 2023;57(3):310-313. doi: 10.5603/PJNNS.a2023.0037. Epub 2023 Jun 7. Neurol Neurochir Pol. 2023. PMID: 37283503 Free article.
INTRODUCTION: We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention to cardiac involvement as a new potential manifestation of this disease. ...Until now, cardiac abnormalities have only been described in inf …
INTRODUCTION: We present the first two Polish families diagnosed with spinocerebellar ataxia type 7 (SCA7) and draw attention …
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. ...Pairwise correlations of ECD with number of CAG repeats and severity of motor symptoms quantified wit …
PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and m …
Treatment of infantile-onset spinal muscular atrophy with nusinersen: final report of a phase 2, open-label, multicentre, dose-escalation study.
Finkel RS, Chiriboga CA, Vajsar J, Day JW, Montes J, De Vivo DC, Bishop KM, Foster R, Liu Y, Ramirez-Schrempp D, Schneider E, Bennett CF, Wong J, Farwell W. Finkel RS, et al. Lancet Child Adolesc Health. 2021 Jul;5(7):491-500. doi: 10.1016/S2352-4642(21)00100-0. Epub 2021 Jun 3. Lancet Child Adolesc Health. 2021. PMID: 34089650 Clinical Trial.
In the 13 participants with two SMN2 copies treated with 12 mg nusinersen, the HINE-2 motor milestone total score increased steadily from a baseline mean of 1.46 (SD 0.52) to 11.86 (6.18) at day 1135, representing a clinically significant change of 10.43 (6.05). ...
In the 13 participants with two SMN2 copies treated with 12 mg nusinersen, the HINE-2 motor milestone total score increased steadily …
Spinocerebellar ataxia types 1, 2, 3, and 6: disease severity and nonataxia symptoms.
Schmitz-Hübsch T, Coudert M, Bauer P, Giunti P, Globas C, Baliko L, Filla A, Mariotti C, Rakowicz M, Charles P, Ribai P, Szymanski S, Infante J, van de Warrenburg BP, Dürr A, Timmann D, Boesch S, Fancellu R, Rola R, Depondt C, Schöls L, Zdienicka E, Kang JS, Döhlinger S, Kremer B, Stephenson DA, Melegh B, Pandolfo M, di Donato S, du Montcel ST, Klockgether T. Schmitz-Hübsch T, et al. Neurology. 2008 Sep 23;71(13):982-9. doi: 10.1212/01.wnl.0000325057.33666.72. Epub 2008 Aug 6. Neurology. 2008. PMID: 18685131 Free article.
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias (SCAs), we studied 526 patients with SCA1, SCA2, SCA3. or SCA6. ...In SCA1, SCA2, and SCA3, SARA score and disease duration were t …
OBJECTIVE: To identify factors that determine disease severity and clinical phenotype of the most common spinocerebellar ataxias …
74 results