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Quoted phrase not found in phrase index: "Spinocerebellar ataxia 48"
Page 1
Late-onset hereditary ataxias with dementia.
Linares AJ, Fogel BL. Linares AJ, et al. Curr Opin Neurol. 2023 Aug 1;36(4):324-334. doi: 10.1097/WCO.0000000000001170. Epub 2023 Jun 2. Curr Opin Neurol. 2023. PMID: 37382141 Review.
Recognition of the relationship between ataxia and dementia can guide clinical genetic evaluation. RECENT FINDINGS: Spinocerebellar ataxias often present with variable phenotypes that may include dementia. Genomic studies have begun to identify links between …
Recognition of the relationship between ataxia and dementia can guide clinical genetic evaluation. RECENT FINDINGS: Spinocerebella …
Optimized testing strategy for the diagnosis of GAA-FGF14 ataxia/spinocerebellar ataxia 27B.
Bonnet C, Pellerin D, Roth V, Clément G, Wandzel M, Lambert L, Frismand S, Douarinou M, Grosset A, Bekkour I, Weber F, Girardier F, Robin C, Cacciatore S, Bronner M, Pourié C, Dreumont N, Puisieux S, Iruzubieta P, Dicaire MJ, Evoy F, Rioux MF, Hocquel A, La Piana R, Synofzik M, Houlden H, Danzi MC, Zuchner S, Brais B, Renaud M. Bonnet C, et al. Sci Rep. 2023 Jun 15;13(1):9737. doi: 10.1038/s41598-023-36654-8. Sci Rep. 2023. PMID: 37322040 Free PMC article.
Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; spinocerebellar ataxia 27B). ...We compared this strategy to targeted nanopore sequencing in a cohort of 22 French Canadian patie …
Dominantly inherited GAA repeat expansions in FGF14 are a common cause of spinocerebellar ataxia (GAA-FGF14 ataxia; …
Pharmacological and non-pharmacological management of spinocerebellar ataxia: A systematic review.
Yap KH, Azmin S, Che Hamzah J, Ahmad N, van de Warrenburg B, Mohamed Ibrahim N. Yap KH, et al. J Neurol. 2022 May;269(5):2315-2337. doi: 10.1007/s00415-021-10874-2. Epub 2021 Nov 6. J Neurol. 2022. PMID: 34743220 Review.
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inherited, with up to 48 recognized genetic subtypes. ...Ten therapies had Level B recommendations for managing ataxia symptoms an …
Spinocerebellar ataxias (SCA) comprise a rare, genetic subgroup within the degenerative ataxias and are dominantly inhe …
Free-Living Motor Activity Monitoring in Ataxia-Telangiectasia.
Khan NC, Pandey V, Gajos KZ, Gupta AS. Khan NC, et al. Cerebellum. 2022 Jun;21(3):368-379. doi: 10.1007/s12311-021-01306-y. Epub 2021 Jul 24. Cerebellum. 2022. PMID: 34302287 Free PMC article.
With disease-modifying approaches under evaluation in ataxia-telangiectasia and other ataxias, there is a need for objective and reliable biomarkers of free-living motor function. ...Activity intensity measures, derived from the sensor data, were compared with in-pe …
With disease-modifying approaches under evaluation in ataxia-telangiectasia and other ataxias, there is a need for objective a …
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.
METHODS: We applied a brain segmentation approach that included a lobular subsegmentation of the cerebellum to magnetic resonance images of 210 ataxic and 48 preataxic spinocerebellar ataxia type 3 mutation carriers and 63 healthy controls. ...CONCLUSION: Reg …
METHODS: We applied a brain segmentation approach that included a lobular subsegmentation of the cerebellum to magnetic resonance images of …
TREC/KREC levels in children with ataxia-telangiectasia.
Boyarchuk O, Makukh H, Kostyuchenko L, Yarema N, Haiboniuk I, Kravets V, Shulhai O, Tretyak B. Boyarchuk O, et al. Immunol Res. 2021 Oct;69(5):436-444. doi: 10.1007/s12026-021-09216-1. Epub 2021 Aug 24. Immunol Res. 2021. PMID: 34427868
The aim of the study was to determine the TREC/KREC levels in the patients diagnosed with ataxia-telangiectasia (AT) and to establish their informative value for early diagnosis of this pathology. ...In 84% of the patients, TREC levels were less than 1000, which was signif …
The aim of the study was to determine the TREC/KREC levels in the patients diagnosed with ataxia-telangiectasia (AT) and to establish …
The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families.
Lieto M, Riso V, Galatolo D, De Michele G, Rossi S, Barghigiani M, Cocozza S, Pontillo G, Trovato R, Saccà F, Salvatore E, Tessa A, Filla A, Santorelli FM, De Michele G, Silvestri G. Lieto M, et al. Eur J Neurol. 2020 Mar;27(3):498-505. doi: 10.1111/ene.14094. Epub 2019 Nov 1. Eur J Neurol. 2020. PMID: 31571321
BACKGROUND AND PURPOSE: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. METHODS: Molecular screening w …
BACKGROUND AND PURPOSE: Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinoce …
Inherited neuropathies: clinical overview and update.
Klein CJ, Duan X, Shy ME. Klein CJ, et al. Muscle Nerve. 2013 Oct;48(4):604-22. doi: 10.1002/mus.23775. Epub 2013 Jun 26. Muscle Nerve. 2013. PMID: 23801417 Free PMC article. Review.
Clinical and Genetic Evaluation of Spinocerebellar Ataxia Type 10 in 16 Brazilian Families.
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG. Domingues BMD, et al. Cerebellum. 2019 Oct;18(5):849-854. doi: 10.1007/s12311-019-01064-y. Cerebellum. 2019. PMID: 31377949
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebellar ataxia, with dysarthria, dysphagia, and epilepsy. ...The most common clinical presentation of SCA10 was pure cerebellar ataxia …
Spinocerebellar ataxia type 10 (SCA10) is an autosomal dominant disorder in which patients have a slowly progressive cerebella …
Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron L, Tezenas du Montcel S, Heinzmann A, Coarelli G, Héron D, Heide S, Herson A, Hennessy J, Petit E, Gargiulo M, Durr A. Pierron L, et al. J Med Genet. 2023 Apr;60(4):346-351. doi: 10.1136/jmg-2022-108477. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270767
Participants were impacted by Huntington disease (n=307), spinocerebellar ataxias (n=114), Steinert myotonic dystrophy (n=82) and amyotrophic lateral sclerosis/frontotemporal dementia (n=59). ...Overall, participants considered prenatal diagnosis (78.034.4 out of 10 …
Participants were impacted by Huntington disease (n=307), spinocerebellar ataxias (n=114), Steinert myotonic dystrophy (n=82) …
95 results