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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 44"
Page 1
Cognitive impairment and its neuroimaging correlates in spinocerebellar ataxia 2.
Stezin A, Bhardwaj S, Hegde S, Jain S, Bharath RD, Saini J, Pal PK. Stezin A, et al. Parkinsonism Relat Disord. 2021 Apr;85:78-83. doi: 10.1016/j.parkreldis.2021.02.028. Epub 2021 Mar 13. Parkinsonism Relat Disord. 2021. PMID: 33756405 Free PMC article.
INTRODUCTION: Cognitive impairment (CI) is reported but is poorly explored in spinocerebellar ataxia 2 (SCA2). This study was undertaken to evaluate and classify cognitive impairment in patients with SCA2 and to identify their grey matter (GM) correlates. ...The und …
INTRODUCTION: Cognitive impairment (CI) is reported but is poorly explored in spinocerebellar ataxia 2 (SCA2). This study was …
Olfactory Function in SCA10.
Moscovich M, Munhoz RP, Moro A, Raskin S, McFarland K, Ashizawa T, Teive HAG, Silveira-Moriyama L. Moscovich M, et al. Cerebellum. 2019 Feb;18(1):85-90. doi: 10.1007/s12311-018-0954-1. Cerebellum. 2019. PMID: 29922950 Free PMC article.
Although the main clinical manifestations of spinocerebellar ataxias (SCAs) result from damage of the cerebellum, other systems may also be involved. ...Mean SS16 score for the SCA10 group was not significantly different from the scores for the SCA3 an …
Although the main clinical manifestations of spinocerebellar ataxias (SCAs) result from damage of the cerebellum, other system …
Systematic assessment of plasma biomarkers in spinocerebellar ataxia.
Shen XN, Wu KM, Huang YY, Guo Y, Huang SY, Zhang YR, Chen SF, Wang HF, Zhang W, Cheng W, Cui M, Dong Q, Yu JT. Shen XN, et al. Neurobiol Dis. 2023 Jun 1;181:106112. doi: 10.1016/j.nbd.2023.106112. Epub 2023 Mar 30. Neurobiol Dis. 2023. PMID: 37003406 Free article.
BACKGROUND AND OBJECTIVES: Plasma neurofilament light (NfL), glial fibrillary acidic protein (GFAP), phosphorylated-tau (p-tau), and beta-amyloid (Abeta) have emerged as promising markers in several neurodegenerative disorders, but whether they can be used as biomarkers in spi …
BACKGROUND AND OBJECTIVES: Plasma neurofilament light (NfL), glial fibrillary acidic protein (GFAP), phosphorylated-tau (p-tau), and beta-am …
Delayed-onset Friedreich's ataxia revisited.
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M. Lecocq C, et al. Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21. Mov Disord. 2016. PMID: 26388117
METHODS: Phenotypic and genotypic comparison of 44 late-onset Friedreich's ataxia, 30 very late-onset Friedreich's ataxia, and 180 typical Friedreich's ataxia was undertaken. ...Delayed-onset Friedreich's ataxia had lower scale for the assessmen …
METHODS: Phenotypic and genotypic comparison of 44 late-onset Friedreich's ataxia, 30 very late-onset Friedreich's ataxia …
Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7.
Hernandez-Castillo CR, Diaz R, Rezende TJR, Adanyeguh I, Harding IH, Mochel F, Fernandez-Ruiz J. Hernandez-Castillo CR, et al. AJNR Am J Neuroradiol. 2021 Sep;42(9):1735-1739. doi: 10.3174/ajnr.A7202. Epub 2021 Jul 1. AJNR Am J Neuroradiol. 2021. PMID: 34210665 Free PMC article.
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disease caused by a cytosine-adenine-guanine (CAG) repeat expansion. Clinically, spinocerebellar ataxia type 7 is characterized by progressive cerebellar …
BACKGROUND AND PURPOSE: Spinocerebellar ataxia type 7 is an autosomal dominant neurodegenerative disease caused by a cytosine- …
Quality of life and neurological disability in children and young people with ataxia telangiectasia.
McGlashan HL, Blanchard CV, Luscombe C, Prasad M, Chow G, Auer DP, Whitehouse WP, Dineen RA. McGlashan HL, et al. Eur J Paediatr Neurol. 2022 Sep;40:34-39. doi: 10.1016/j.ejpn.2022.07.004. Epub 2022 Jul 21. Eur J Paediatr Neurol. 2022. PMID: 35932633 Free article.
AIM: To explore neurological factors affecting quality of life (QoL) in children and young people with ataxia-telangiectasia (A-T), from both child and parent perspective. ...Parental, but not child, ratings of QoL was predicted by a regression model based on neurol …
AIM: To explore neurological factors affecting quality of life (QoL) in children and young people with ataxia-telangiectasia (A-T), f …
Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.
Afonso Ribeiro J, Simeoni S, De Min L, Uchiyama T, Tung Lo Y, Solanky N, Garcia-Moreno H, Giunti P, Panicker JN. Afonso Ribeiro J, et al. Ann Clin Transl Neurol. 2021 Feb;8(2):321-331. doi: 10.1002/acn3.51266. Epub 2020 Dec 18. Ann Clin Transl Neurol. 2021. PMID: 33338328 Free PMC article.
BACKGROUND: Little information is available in spinocerebellar ataxias (SCAs) regarding pelvic organ symptoms. The aim of this study was to characterize the lower urinary tract (LUT) and bowel dysfunction in autosomal dominant spinocerebellar ataxias. …
BACKGROUND: Little information is available in spinocerebellar ataxias (SCAs) regarding pelvic organ symptoms. The aim of this …
Ophthalmological and Neurologic Manifestations in Pre-clinical and Clinical Phases of Spinocerebellar Ataxia Type 7.
Azevedo PB, Rocha AG, Keim LMN, Lavinsky D, Furtado GV, de Mattos EP, Vargas FR, Leotti VB, Saraiva-Pereira ML, Jardim LB; Rede Neurogenetica. Azevedo PB, et al. Cerebellum. 2019 Jun;18(3):388-396. doi: 10.1007/s12311-019-1004-3. Cerebellum. 2019. PMID: 30637674
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and retina. ...Gradual changes from controls to pre-symptomatic and then to symptomatic carriers were seen in mean (SD) of visual fields - 1.34 (1.1 …
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine disease that progressively affects the cerebellum, brainstem, and reti …
Electrophysiological and neuropsychological assessment of cognition in spinocerebellar ataxia type 1 patients: a pilot study.
Contaldi E, Sensi M, Colucci F, Capone JG, Braccia A, Nocilla MR, Diozzi E, Contini E, Pelizzari AC, Tugnoli V. Contaldi E, et al. Neurol Sci. 2023 May;44(5):1597-1606. doi: 10.1007/s10072-022-06597-5. Epub 2023 Jan 14. Neurol Sci. 2023. PMID: 36639526 Free PMC article.
Both neuropsychological and affective disorders are present in patients with spinocerebellar ataxia type 1 (SCA1), but the underlying mechanisms need further clarification. ...The expansion of trinucleotide repeats correlated with P300 latency (r=-0.607, p=0.048), w …
Both neuropsychological and affective disorders are present in patients with spinocerebellar ataxia type 1 (SCA1), but the und …
'Costa da Morte' ataxia is spinocerebellar ataxia 36: clinical and genetic characterization.
García-Murias M, Quintáns B, Arias M, Seixas AI, Cacheiro P, Tarrío R, Pardo J, Millán MJ, Arias-Rivas S, Blanco-Arias P, Dapena D, Moreira R, Rodríguez-Trelles F, Sequeiros J, Carracedo A, Silveira I, Sobrido MJ. García-Murias M, et al. Brain. 2012 May;135(Pt 5):1423-35. doi: 10.1093/brain/aws069. Epub 2012 Apr 3. Brain. 2012. PMID: 22492559 Free PMC article.
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia with motor neuron signs. ...We estimated the origin of the founder mutation in Galicia to have occurred ~1275 years ago. Out of 160 Galic …
Spinocerebellar ataxia 36 has been recently described in Japanese families as a new type of spinocerebellar ataxia …
94 results