spinocerebellar ataxias
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study
... for spinocerebellar ataxias; DMCC: RDCRN Data monitoring coordinating center; EQVAS: EQ-5D (quality of life) visual analogue scale; EQ-5D: European quality of life-5 dimensions; polyQ: Polyglutamine; RDC: ...
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Nonmotor symptoms in spinocerebellar ataxias (SCAs)
... Nonmotor symptoms (NMS) have been increasingly recognized in a number of neurodegenerative diseases with a burden of disability that parallels or even surpasses that induced by motor symptoms. As NMS have often been ...
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MR Imaging in Spinocerebellar Ataxias: A Systematic Review
... RESULTS: After reviewing the 706 results, 18 studies were suitable for inclusion: 2 studies in SCA1, 1 in SCA2, 15 in SCA3, 1 in SCA7, 1 in SCA1 and SCA6 presymptomatic carriers, and none in SCA17 and ...
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Current understanding of the role of microRNAs in spinocerebellar ataxias
... The number of studies highlighting the role of microRNAs (miRNAs) in human physiology and diseases is growing, but many miRNA-driven regulatory mechanisms remain elusive. A proper understanding of the exact functions of ...
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The merit of proton magnetic resonance spectroscopy in the longitudinal assessment of spinocerebellar ataxias and multiple system atrophy-cerebellar type
... Background: Spinocerebellar ataxia (SCA) and multiple system atrophy-cerebellar type (MSA-C) often present with similar clinical manifestations in the beginning. Magnetic resonance spectroscopy (MRS) has been ...
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Diffusion Tensor Imaging of Spinocerebellar Ataxias Types 1 and 2
... the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ...of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Korean patients [published erratum appears in ...
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Clinical analysis of adult-onset spinocerebellar ataxias in Thailand
... However, there were also noticeable differences in some aspects between Thai patients and patients of other ethnic groups including (1) frequent observation of slow saccades in all of th[r] ...
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Spinocerebellar ataxia: A clinical and molecular genetic study
... 1.2 SPINOCEREBELLAR ATAXIAS: CLINICOGENETIC CLASSIFICATION The spinocerebellar ataxias (SCAs) are a group of inherited neurological disorders which are clinically and genetically ...
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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
... Spinocerebellar ataxias (SCAs) are genetically, clinically and pathologically heterogeneous diseases characterized by progressive cerebellar ataxia variably associated with dysarthria, oculomotor ...
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Systematic review of autosomal recessive ataxias and proposal for a classification
... recessive ataxias is presented in Table 1 in chronological order of gene ...recessive ataxias, but rather in the list of complex disorders that have prominent ...especially spinocerebellar ...
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Management of the ataxias : towards best clinical practice
... early-onset ataxias, under 20 years of age, tend to be of autosomal recessive (AR) inheritance ...the spinocerebellar ataxias (SCAs) are autosomal dominant (AD) and tend to present mostly after 20 ...
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Recent advances in modelling of cerebellar ataxia using induced pluripotent stem cells
... ataxia (FRDA) and ataxia-telangiectasia (A-T), as well as the autosomal dominant polyglutamine spinocerebellar ataxias (SCAs) are the most studied forms of ataxias. Despite significant clinical and ...
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Autosomal recessive cerebellar ataxias
... inherited ataxias based on two criteria: the age of onset and pathological mechanisms ...onset ataxias (before age of 20 years) show autosomal recessive inheritance and may be classified as ...frequent ...
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Proton Spectroscopy and Imaging at 3T in Ataxia Telangiectasia
... This study examined a group of adult patients with A-T, show- ing marked cerebellar atrophy of the vermis and hemispheres in all. T2*-weighted gradient-echo imaging revealed multiple telangiectasias in 2 of the patients ...
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Ataxia in children: early recognition and clinical evaluation
... 50]. Ataxias are signs reported in other AR disorders such as SeSAME syndrome (seizures, sensoneural deafness, ataxia, mental retardation and electrolyte unbalance) and in SYNC1 ataxia (spinocerebellar ...
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Epidemiological, clinical, and molecular characterization of Cuban families with spinocerebellar ataxia type 3/Machado-Joseph disease
... In conclusions, SCA3 was identified as the second most common recognized spinocerebellar ataxia in the Cuba showing different epidemiological characteristics to SCA2. This research reports the first clinical and ...
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STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity
... site for a wide range of proteins to be ubiquitinated by CHIP, including the HSPs (Figure 1). So far, more than 30 proteins have been identified as targets of CHIP [10]. The list includes ataxin-1, a protein that causes ...
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Infantile onset spinocerebellar ataxia: MR and CT findings
... infantile-onset spinocerebellar ataxia with CT and/or MR to determine the presence of cerebellar and brain stem atrophy and parenchymal ...infantile-onset spinocerebellar ataxia correspond to the ...
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Developing genetic therapies for polyglutamine disorders
... The most prevalent and best studied polyQ disorders, being Huntington disease (HD) and spinocerebellar ataxia type 3 (SCA3), and the molecular biology of the disease causing proteins, [r] ...
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An ITPR1 Gene Deletion Causes Spinocerebellar Ataxia 15/16: A Genetic, Clinical and Radiological Description
... Citation: Novak, M. J., Sweeney, M., Li, A., Treacy, C., Chandrashekar, H. S., Giunti, P., Goold, R., Davis, M. B., Houlden, H. and Tabrizi, S. J. (2010). An ITPR1 Gene Deletion Causes Spinocerebellar Ataxia ...
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