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The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P. Ruano L, et al. Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5. Neuroepidemiology. 2014. PMID: 24603320 Free article. Review.
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease was the most common dominant ataxia, followed by SCA2 and SCA6. The autosomal recessive (A …
The prevalence range of dominant HCA was 0.0-5.6/10(5), with an average of 2.7/10(5) (1.5-4.0/10(5)). Spinocerebellar ataxia …
Neurophysiological features in spinocerebellar ataxia type 2: Prospects for novel biomarkers.
Velázquez-Pérez L, Rodríguez-Labrada R, González-Garcés Y, Vázquez-Mojena Y, Pérez-Rodríguez R, Ziemann U. Velázquez-Pérez L, et al. Clin Neurophysiol. 2022 Mar;135:1-12. doi: 10.1016/j.clinph.2021.12.005. Epub 2021 Dec 23. Clin Neurophysiol. 2022. PMID: 34998091 Review.
Electrophysiological biomarkers are useful to assess the degeneration and progression of the nervous system in pre-ataxic and ataxic stages of the Spinocerebellar Ataxia Type 2 (SCA2). These biomarkers are essentially defined by their clinical significance, d …
Electrophysiological biomarkers are useful to assess the degeneration and progression of the nervous system in pre-ataxic and ataxic stages …
An insight into advances in the pathogenesis and therapeutic strategies of spinocerebellar ataxia type 3.
Wu Y, Peng Y, Wang Y. Wu Y, et al. Rev Neurosci. 2015;26(1):95-104. doi: 10.1515/revneuro-2014-0040. Rev Neurosci. 2015. PMID: 25222595 Review.
Abstract Spinocerebellar ataxia type 3 (SCA3) is the most common type of spinocerebellar ataxia, which are inherited neurodegenerative diseases. ...
Abstract Spinocerebellar ataxia type 3 (SCA3) is the most common type of spinocerebellar ataxia, w …
Spinocerebellar ataxia with ocular motor apraxia and DNA repair.
Onodera O. Onodera O. Neuropathology. 2006 Aug;26(4):361-7. doi: 10.1111/j.1440-1789.2006.00741.x. Neuropathology. 2006. PMID: 16961074 Review.
At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with ocular motor apraxia and hypoalbuminemia (EAOH)/ ataxia with oculomotor apraxia type 1 (AOA1), and ataxia with oculomotor …
At least four disorders, ataxia telangiectasia (AT), an ataxia-telangiectasia-like disorder, early-onset ataxia with oc …
Tremor-spectrum in spinocerebellar ataxia type 3.
Bonnet C, Apartis E, Anheim M, Legrand AP, Baizabal-Carvallo JF, Bonnet AM, Durr A, Vidailhet M. Bonnet C, et al. J Neurol. 2012 Nov;259(11):2460-70. doi: 10.1007/s00415-012-6531-5. Epub 2012 May 17. J Neurol. 2012. PMID: 22592286 Review.
Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrapyramidal symptoms. ...
Spinocerebellar ataxia type 3 (SCA3) can be present with a combination of cerebellar, neuropathic, pyramidal, or extrap …
Repeat associated non-ATG (RAN) translation: new starts in microsatellite expansion disorders.
Cleary JD, Ranum LP. Cleary JD, et al. Curr Opin Genet Dev. 2014 Jun;26:6-15. doi: 10.1016/j.gde.2014.03.002. Epub 2014 May 22. Curr Opin Genet Dev. 2014. PMID: 24852074 Free PMC article. Review.
RAN proteins have been reported in a growing number of diseases, including spinocerebellar ataxia type 8 (SCA8), myotonic dystrophy type 1 (DM1), Fragile-X tremor ataxia syndrome (FXTAS), and C9ORF72 amyotrophic lateral sclerosis (ALS)/frontotem …
RAN proteins have been reported in a growing number of diseases, including spinocerebellar ataxia type 8 (SCA8), myoton …
'Medusa-head ataxia': the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII.
Jarius S, Wildemann B. Jarius S, et al. J Neuroinflammation. 2015 Sep 17;12:166. doi: 10.1186/s12974-015-0356-y. J Neuroinflammation. 2015. PMID: 26377085 Free PMC article. Review.
Serological testing for anti-neural autoantibodies is important in patients presenting with idiopathic cerebellar ataxia, since these autoantibodies may indicate cancer, determine treatment and predict prognosis. ...Of note, most of these antibodies target antigens involve …
Serological testing for anti-neural autoantibodies is important in patients presenting with idiopathic cerebellar ataxia, since these …
[Molecular and clinical features in spinocerebellar ataxia type 6 (SCA6) in Japanese].
Ikeuchi T. Ikeuchi T. Nihon Rinsho. 1999 Apr;57(4):891-5. Nihon Rinsho. 1999. PMID: 10222785 Review. Japanese.
Spinocerebellar ataxia type 6 (SCA6, MIM 183086) is an autosomal dominant spinocerebellar degeneration. ...Anticipation in SCA6 is quite mild. The size of expanded CAG repeats ranged 21 to 26 repeats and was found to be correlated inversely with …
Spinocerebellar ataxia type 6 (SCA6, MIM 183086) is an autosomal dominant spinocerebellar degeneration. ...Antic …