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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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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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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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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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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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The pathogenesis of spinocerebellar ataxia
The Cerebellum, 2005Six forms of spinocerebellar ataxia (SCA) are caused by pathological cytosine-adenine-guanine (CAG) trinucleotide repeat expansions in the coding region of the mutated genes. The translated proteins contain abnormally long polyglutamine stretches, and SCA-1, SCA-2, SCA-3/Machado-Joseph disease (MJD), SCA-6, SCA-7, and SCA-17 are "polyglutamine diseases"
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Brain pathology of spinocerebellar ataxias
Acta Neuropathologica, 2012The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of neurodegenerative diseases with progressive ataxia and cerebellar degeneration. The current classification of this disease group is based on the underlying genetic defects and their typical disease courses.
Kay, Seidel +5 more
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