Journal ArticleDOI
A new form of heredo-familial spinocerebellar degeneration with slow eye movements (nine families)
N. H. Wadia,R. K. Swami +1 more
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This article is published in Brain.The article was published on 1971-01-01. It has received 166 citations till now. The article focuses on the topics: Spinocerebellar Degenerations.read more
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Book ChapterDOI
Spinocerebellar ataxia type 2
Daniel R. Scoles,Stefan M. Pulst +1 more
TL;DR: This chapter describes the characteristics of SCA2 patients briefly, and reviews ATXN2 molecular features and progress toward the identification of a treatment forSCA2.
Journal ArticleDOI
Involvement of the audiovestibular system in multiple sclerosis. An otoneurologic and audiologic study
TL;DR: A wide range of audiologic and otoneurologic tests were used to obtain a good understanding of the respective disorders in MS, to gain a better knowledge of the role of otology inMS, and to correlate the results with the clinical findings in order to find the most useful tests to detect MS lesions.
Journal ArticleDOI
Unexpanded and intermediate CAG polymorphisms at the SCA2 locus (ATXN2) in the Cuban population: evidence about the origin of expanded SCA2 alleles
José Miguel Laffita-Mesa,Luis Velázquez-Pérez,Nieves Santos Falcón,Tania Cruz-Mariño,Yanetza González Zaldívar,Yaimeé Vázquez Mojena,Dennis Almaguer-Gotay,Luis Enrique Almaguer Mederos,Roberto Rodríguez Labrada +8 more
TL;DR: The frequency of large ANs in the ataxin-2 gene is the highest worldwide, although short ANs are also frequent, and this highly polymorphic population displayed also high variability in the CAG sequence, featured by loss of the anchor CAA interruption(s).
Journal ArticleDOI
Absence of REM and altered NREM sleep in patients with spinocerebellar degeneration and slow saccades
TL;DR: These are the first awake and ambulatory humans in whom consistent abscence of REM sleep has been demonstrated and both behaved appropriately during wakefulness and showed no overt psychological abnormalities.
Journal ArticleDOI
Slow saccades and other eye movement disorders in spinocerebellar atrophy type 1
TL;DR: Each combination of oculomotor deficits with or without optic atrophy may occur irrespective of the gene locus of the disease, making a correlation between clinical signs and genetic findings difficult.
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