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Nature Reviews Disease Primers, 2019 The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance and coordination accompanied by slurred speech; onset is most often in adult life. Genetically, SCAs are grouped as repeat expansion SCAs, such as SCA3/Machado-Joseph disease
Thomas Klockgether +2 more
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Dystonia and ataxia progression in spinocerebellar ataxias [PDF]
Parkinsonism and Related Disorders, 2017 Dystonia is a common feature in spinocerebellar ataxias (SCAs). Whether the presence of dystonia is associated with different rate of ataxia progression is not known.To study clinical characteristics and ataxia progression in SCAs with and without dystonia.We studied 334 participants with SCA 1, 2, 3 and 6 from the Clinical Research Consortium for ...
Raymond Y Lo, Shi-Rui Gan, Guangbin Xia
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Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia
Movement Disorders, 2019 Background: Spinocerebellar ataxias are rare dominantly inherited neurodegenerative diseases that lead to severe disability and premature death. Objective: To quantify the impact of disease progression measured by the Scale for the Assessment and Rating ...
Massimo Pandolfo +2 more
exaly +2 more sources
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The electrophysiology of spinocerebellar ataxias
Neurophysiologie Clinique/Clinical Neurophysiology, 2016Spinocerebellar Ataxias (SCAs) are a group of autosomal dominantly inherited neurodegenerative diseases, involving the cerebellum and the brainstem. Genetic testing is the most important method of diagnosis. Nowadays, nearly 40 types of SCAs have been identified by genetic analysis.
Lipin, Liang, Tao, Chen, Yan, Wu
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Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity
Movement Disorders, 2016 Ilg W, Fleszar Z, Schatton C, et al. Individual changes in preclinical spinocerebellar ataxia identified via increased motor complexity. Movement Disorders.
Ludger Schöls +2 more
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Clinical Neuropharmacology, 2000
The spinocerebellar ataxias (SCAs) are diseases characterized by the progressive degeneration and subsequent loss of neurons accompanied by reactive gliosis, degeneration of fibers from the deteriorating neurons, and clinical symptoms reflecting the locations of the lost neurons.
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The spinocerebellar ataxias (SCAs) are diseases characterized by the progressive degeneration and subsequent loss of neurons accompanied by reactive gliosis, degeneration of fibers from the deteriorating neurons, and clinical symptoms reflecting the locations of the lost neurons.
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2018
There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age at ...
Bing-Wen, Soong, Patrick J, Morrison
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There are over 40 autosomal dominant spinocerebellar ataxias (SCAs) now identified. In this chapter we delineate the phenotypes of SCAs 1-44 and dentatorubral-pallidoluysian atrophy (DRPLA) and highlight the clinical and genetic features of the well characterised SCAs in detail in the main section of the chapter, along with their frequency and age at ...
Bing-Wen, Soong, Patrick J, Morrison
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Spinocerebellar ataxias: an update
Current Opinion in Neurology, 2007Here we discuss recent advances regarding the molecular genetic basis of dominantly inherited ataxias.Important recent observations include insights into the mechanisms by which expanded polyglutamine causes cerebellar degeneration; new findings regarding how noncoding expansions may cause disease; the discovery that conventional (i.e.
Bing-wen, Soong, Henry L, Paulson
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Neurological Sciences, 2008
Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
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Conventional MRI in patients presenting with progressive ataxia demonstrates the three main patterns of macroscopic damage, namely spinal atrophy, olivopontocerebellar atrophy and cortical cerebellar atrophy. Moreover it contributes to the diagnosis of fragile-X tremor ataxia syndrome and siderosis of the CNS.
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Speech in spinocerebellar ataxia
Brain and Language, 2013Spinocerebellar ataxias (SCAs) are a heterogeneous group of autosomal dominant cerebellar ataxias clinically characterized by progressive ataxia, dysarthria and a range of other concomitant neurological symptoms. Only a few studies include detailed characterization of speech symptoms in SCA.
Ellika, Schalling, Lena, Hartelius
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