... is published and distributed under the terms of the Oxford University Press, Standard Journals Publication Model ( https://dbpia.nl.go.kr/pages/standard-publication-reuse-rights ) Abstract A significant barrier to developing disease-modifying therapies for spinocerebellar ataxias (SCAs) and multiple system...

... been suggested between multiple system atrophy (MSA) and spinocerebellar ataxia 27B, the autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in FGF14. This study investigated the frequency of FGF14 GAA•TTC repeat expansion in clinically diagnosed...

... origin of SCA10 . Hum Mol Genet   2024 ; 3 : 1567 – 1574 . 2. Matsuura   T , Ashizawa   T . Spinocerebellar ataxia type 10 . In: Adam   M.P. . et al. (eds.), GeneReviews®[Internet] . Seattle : University of Washington , 2002 , Accessed 01-19-2021. https...

.../ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Spinocerebellar ataxia type 3 (SCA3) is an uncommon inherited (autosomal dominant) neurodegenerative disorder caused by abnormal accumulation of ataxin-3 protein...

... deposition within the tapetal fundus and subsequent retinal degeneration resulting in visual deficits. Affected dogs may also exhibit neurological signs that include ataxia and hindlimb proprioceptive deficits. In all cases, circulating plasma concentrations of α-tocopherol are low. This study sought...

... is properly cited. Abstract Dominantly inherited intronic GAA repeat expansions in the fibroblast growth factor 14 gene have recently been shown to cause spinocerebellar ataxia 27B. Currently, the pathogenic threshold of (GAA)_≥300 repeat units is considered highly penetrant, while (GAA)₂₅₀...

... disturbances and migraine with aura instead of hemiplegic attacks. Graphical Abstract Graphical abstract hemiplegic migraine ATP1A2 cortical spreading depression episodic ataxia Hemiplegic migraine (HM) is a rare form of migraine consisting of both reversible motor weakness and visual, sensory...

... and exclusion events, SCA7 showed the maximal ΔPSI among the cell lines ( Fig. 1B ). The Spinocerebellar Ataxias (SCAs) are a genetically heterogeneous group of rare, dominantly inherited neurological disorders characterized by progressive ataxia [ 1 ]. Despite different genetic backgrounds, SCAs share...

... License ( https://creativecommons.org/licenses/by/4.0/ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract One of the characteristic regions of brainstem degeneration across multiple spinocerebellar ataxias (SCAs...

... abnormalities and ataxia, particularly in the elderly. ^12-15 Given that Cacna2d1 knockout mice do not exhibit gait disorders, ¹⁶ the adverse effects of gabapentinoids are unlikely to be caused by α2δ-1 inhibition. The cerebellum plays a crucial role in the accurate control...

.../licenses/by/4.0/ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Abstract Spinocerebellar ataxia 27B (SCA27B) is a common autosomal dominant ataxia caused by an intronic GAA•TTC repeat expansion in FGF14...

... initiate the DDR network to activate different DNA repair pathways. ^{13 , 14} The ataxia-telangiectasia mutated (ATM) protein kinase, one of the best-known DDR kinases, is regarded as the master regulator of responses to DSBs. ¹⁵ Primarily activated by DSBs, ATM...

... the Permissions link on the article page on our site—for further information please contact [email protected]. See the journal About page for additional terms. Abstract Introduction Friedreich's ataxia (FRDA) is a multisystem disorder caused by frataxin deficiency. FRDA-related diabetes mellitus (DM...

... for Spastic Ataxia of Charlevoix–Saguenay based on the assessment of sacsin protein levels by western blot in peripheral blood mononuclear cells. The absence of sacsin determines the pathogenicity of missense SACS variants, which indeed trigger sacsin cotranslational degradation. Graphical Abstract...

.../standard-publication-reuse-rights ) An Italian traveller returning from Kenya was diagnosed and treated for malaria. Fourteen days later, he developed cerebellar symptoms and was diagnosed with delayed cerebellar ataxia (DCA), a rare, self-limiting post-malarial neurological complication with a favourable...

... checkpoints by activating the ataxia-telangiectasia mutated (ATM) protein kinase. Hypomorphic pathogenic variants in the MRE11, RAD50, or NBS1 genes cause autosomal recessive genome instability syndromes featuring variable degrees of dwarfism, neurological defects, anemia...

... cohort of 448 unrelated probands presenting with cerebellar ataxia, we identified ultra-rare TUBA4A missense variants, all being absent from public databases and predicted pathogenic by multiple in silico tools. In addition, gene burden analyses in the 100 000 Genomes project (100KGP...

.... The HCs were recruited from the local communities with age ≥ 18 years, right-handed, and had no history of any neuropsychiatric disorders. Demographics collection were performed before MRI data acquisition on the scanning day. Meanwhile, the Scale for the Assessment and Rating of Ataxia (SARA) ( Schmitz...

.../licenses/by/4.0/ ), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. Graphical Abstract Graphical Abstract Friedreich's ataxia TUG1 biomarker frataxin knockdown gene expression Friedreich's Ataxia Research Alliance...

.../standard-publication-reuse-rights ) Abstract Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease, is reported to be the most common type of autosomal dominant cerebellar ataxia (ADCA). SCA3 patients suffer from a progressive decline in motor coordination and other disease-associated...