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NESSCA Validation and Responsiveness of Several Rating Scales in Spinocerebellar Ataxia Type 2
(Springer, 2017)
Spinocerebellar ataxia type 2 (SCA2), caused by a CAG expansion (CAGexp) at ATXN2, has a complex clinical picture. While validated ataxia scales are available, comprehensive instruments to measure all SCA2 neurological ...
Spinocerebellar ataxia type 10: common haplotype and disease progression rate in Peru and Brazil
(Wiley, 2017)
Background and purpose: Spinocerebellar ataxia type 10 is a neurodegenerative disorder that is due to an expanded ATTCT repeat tract in the ATXN10 gene. Our aim was to describe clinical characteristics and intragenic ...
Patients with autosomal dominant spinocerebellar ataxia have more risk of falls, important balance impairment, and decreased ability to function
(Academia Brasileira de Neurologia - ABNEURO, 2013-08-01)
OBJECTIVES: To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS: A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti ...
Ataxia espinocerebelar: análise perceptivo-auditiva e acústica da fala em três casos
(Pró-Fono Produtos Especializados para Fonoaudiologia Ltda., 2009-06-01)
BACKGROUND: dysarthrias are commonly found in patients with spinocerebellar ataxias (SCA). AIM: to characterize perceptual and acoustic features of speech in three patients with spinocerebellar ataxia and to verify the ...
Pattern of Peripheral Nerve Involvement in Spinocerebellar Ataxia Type 2: a Neurophysiological Assessment
(Springer, 2016)
Peripheral neuropathy is frequent in spinocerebellar ataxia type 2 (SCA2), but the pattern and characteristics of nerve involvement are still an unsettled issue. This study aimed to evaluate the prevalence, extent, and ...
Clinical correlates of olfactory dysfunction in spinocerebellar ataxia type 3
(Elsevier B.V., 2011-06-01)
Olfactory dysfunction is a very common and early sign in neurodegenerative disorders, but few data are already available in hereditary ataxias. Our aim was to evaluate the sense of smell in patients with molecular-proven ...
Diagnosis at a first glance? Bulging eyes as a clue for a more accurate diagnosis in spinocerebellar ataxias
(Academia Brasileira de Neurologia - ABNEURO, 2013-07-01)
Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?
(Elsevier B.V., 2014-12-15)
In this article, we describe three patients with different spinocerebellar ataxia (SCA) subtypes presenting with unusual movement disorders predominantly characterized by choreoathetosis, which, together with their autosomal ...
Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil
(Springer, 2017)
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been ...
NREM-related parasomnias in Machado-Joseph disease: clinical and polysomnographic evaluation
(Wiley-Blackwell, 2016)
Spinocerebellar ataxias (SCA) are autosomal dominant neurodegenerative disorders that affect the cerebellum and its connections, and have a marked clinical and genetic variability. Machado-Joseph disease (MJD) or spinocerebellar ...