Spinocerebellar ataxia'
Motor dysfunctions and neuropathology in mouse models of spinocerebellar ataxia type 2: A comprehensive review
... Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant ataxia caused by an expansion of CAG repeats in the exon 1 of the gene ATXN2, conferring a gain of toxic function that triggers the ...
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Quality of life in individuals with spinocerebellar ataxia type 10: a preliminary study
... Spinocerebellar ataxia type 10 (SCA10) is characterized by gait ataxia, dysarthria, nystagmus, epilepsy, reduced cognitive ability and depression, which lead to functional loss and behavioral ...of ...
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The SCA1 (Spinocerebellar ataxia type 1) and MJD (Machado-Joseph
... Spinocerebellar ataxia type 1 (SCA1) and Machado- Joseph disease (MJD/SCA3) are autosomal dominant neurodegenerative diseases caused by expansions of a CAG repeat in the SCA1 and MJD genes, ...
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Change in the cortical complexity of spinocerebellar ataxia type 3 appears earlier than clinical symptoms.
... with spinocerebellar ataxia type 3 (SCA3) have exhibited cerebral cortical involve- ment and various mental deficits in previous ...of Ataxia (SARA), the SCA3 patients were diagnosed with cortical ...
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Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine caused by a unique CACNA1A missense mutation in patients from a large family
... sodic ataxia type 2, and spinocerebellar ataxia type 6 ...episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with ...
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Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia
... Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. ...
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Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function
... spinocerebellar ataxia. Methods: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti balance and gait assessment and the ...
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Spinal cord atrophy in spinocerebellar ataxia type 1
... A 50-year-old man presented with 9-years history of pro - gressive ataxia. His father had undiagnosed ataxia. Exa mi nation showed ataxia and pyramidal signs. Brain MRI: olivopontoce- rebellar ...
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Population genetics and new insight into range of CAG repeats of spinocerebellar ataxia type 3 in the Han Chinese population.
... Spinocerebellar ataxia type 3 (SCA3), also called Machado-Joseph disease (MJD), is one of the most common SCAs worldwide and caused by a CAG repeat expansion located in ATXN3 ...
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Ataxin-3 phosphorylation decreases neuronal defects in spinocerebellar ataxia type 3 models
... PolyQ-expanded atx3 is known to cause cellular stress and to have an increased tendency to aggregate in vitro and in cultured cells, forming inclusions in MJD patients’ brains often localized in cell nuclei (Paulson et ...
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Temporal retinal nerve fiber loss in patients with spinocerebellar ataxia type 1.
... Strengths of the study are the prospective design, the matched control group and the use of spectral domain OCT with layer segmentation analysis. The used OCT device provides an eye tracking function that registers OCT ...
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A pentanucleotide ATTTC repeat insertion in the non-coding region of DAB1, mapping to SCA37, causes spinocerebellar ataxia.
... Advances in human genetics in recent years have largely been driven by next-generation sequencing (NGS); however, the discovery of disease-related gene mutations has been biased toward the exome because the large and ...
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Arq. NeuroPsiquiatr. vol.75 número10
... Among her remarkable contributions was her extensive study of Machado-Joseph disease (now also incorrectly known as spinocerebellar ataxia type 3, or SCA3), the most common spi- nocere[r] ...
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Fisioter. Pesqui. vol.20 número3
... The spinocerebellar ataxia (SCA) is an in- herited disorder that leads to progressive degeneration of the cerebellum and its pathways with impairments of balance and other ...
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Arq. NeuroPsiquiatr. vol.74 número4
... syndrome, spinocerebellar ataxia type 3), were evaluated in the Movement Disorders Unit of the Federal University of ...with spinocerebellar ataxia type 3 presented with ...with ...
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IMPACTO PSICOSOCIAL DE PRUEBAS GENÉTICAS PREDICTIVAS EN ENFERMEDADES NEURODEGENERATIVAS DE INICIO TARDÍO
... for spinocerebellar ataxia type 2 (SCA2) in Cuba, which has been structured along the international guidelines for Huntington ...the Ataxia Clinic in the province of Holguín and had completed the ...
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Arq. NeuroPsiquiatr. vol.69 número3
... (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea- acanthocytosis (ChAc) among 29 Brazilian patients with a HD-like ...
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Arq. NeuroPsiquiatr. vol.65 número4A
... of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identifica- tion of further families ...
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Validation of neuronal inclusions as a biomarker for pre-clinical trials in a mouse model of Machado-Joseph disease
... dominant ataxia and they named it as Machado disease ...hereditary ataxia in 1975, by Rosenberg and colleagues, and they designated it as Joseph disease ...called spinocerebellar ataxia type 3 ...
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SCA2 presenting as an ataxia-parkinsonism-motor neuron disease syndrome
... consent. Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, slow saccadic eye move- ments and peripheral ...
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