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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 …
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 …
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.
Clinically, spinocerebellar ataxia type 7 is characterized by progressive cerebellar ataxia, pyramidal signs, and macular degeneration. ...MATERIALS AND METHODS: Using a semiautomated procedure applied to MR imaging data, we analyzed spinal cord area and ecce …
Clinically, spinocerebellar ataxia type 7 is characterized by progressive cerebellar ataxia, pyramidal signs, and macul …
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 …
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 …
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL; Care4Rare Canada Consortium; Dudding-Byth T, Boycott KM. Zambonin JL, et al. Orphanet J Rare Dis. 2017 Jun 28;12(1):121. doi: 10.1186/s13023-017-0672-7. Orphanet J Rare Dis. 2017. PMID: 28659154 Free PMC article. Review.
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characterized by infantile-onset hypotonia, gross motor delay and cognitive impairment. ...Disease course was non-progressive with infantile-onset h …
BACKGROUND: Spinocerebellar ataxia type 29 (SCA29) is an autosomal dominant, non-progressive cerebellar ataxia characte …
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.
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 …
Clinical and functional characterization of a novel STUB1 frameshift mutation in autosomal dominant spinocerebellar ataxia type 48 (SCA48).
Chen HY, Hsu CL, Lin HY, Lin YF, Tsai SF, Ho YJ, Li YR, Tsai JW, Teng SC, Lin CH. Chen HY, et al. J Biomed Sci. 2021 Sep 26;28(1):65. doi: 10.1186/s12929-021-00763-1. J Biomed Sci. 2021. PMID: 34565360 Free PMC article.
BACKGROUND: Heterozygous pathogenic variants in STUB1 are implicated in autosomal dominant spinocerebellar ataxia type 48 (SCA48), which is a rare familial ataxia disorder. We investigated the clinical, genetic and functional characteristics of STUB1 m …
BACKGROUND: Heterozygous pathogenic variants in STUB1 are implicated in autosomal dominant spinocerebellar ataxia type 48 …
96 results