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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Journal ArticleDOI
The role of the SCA2 trinucleotide repeat expansion in 89 autosomal dominant cerebellar ataxia families. Frequency, clinical and genetic correlates.
Paola Giunti,G. Sabbadini,MG Sweeney,Mb Davis,Liana Veneziano,Elide Mantuano,Antonio Federico,R Plasmati,Marina Frontali,Nw Wood +9 more
TL;DR: The identification of the SCA2 mutation in 31 out of 38 families with the ADCA I phenotype, but in none of those with ADCA II, ADCA III or ILOCA confirms the specificity of this mutation, highlights significant differences between groups.
Journal ArticleDOI
Saccade velocity is controlled by polyglutamine size in spinocerebellar ataxia 2
Luis Velázquez-Pérez,Carola Seifried,N. Santos-Falcón,M. Abele,Ulf Ziemann,Luis Enrique Almaguer,E Martínez-Góngora,Sánchez-Cruz G,Nalia Canales,Ruth Pérez-González,Mercedes Velázquez-Manresa,Bettina Viebahn,Sebastian von Stuckrad-Barre,Michael Fetter,Thomas Klockgether,Georg Auburger +15 more
TL;DR: Saccade velocity is a sensitive, quite specific, and objective endophenotype, useful to search polyglutamine modifier genes in patients with ataxia type 2 and controls.
Journal ArticleDOI
Recessive Ataxia With Ocular Apraxia: Review of 22 Portuguese Patients
Clara Barbot,Paula Coutinho,R. Chorão,Carla Ferreira,José Barros,I. Fineza,Karin Dias,José P. Monteiro,A. Guimarães,P. Mendonça,Maria do Céu Moreira,Jorge Sequeiros +11 more
TL;DR: Ataxia with ocular apraxia may be more frequent than postulated before, and may be identified clinically using the following criteria: (1) autosomal recessive transmission; (2) early onset (for most patients in early childhood); (3) combination of cerebellar ataxia, ocular Apraxia, and early areflexia, with later appearance of the full picture of peripheral neuropathy.
Journal ArticleDOI
Histological identification of premotor neurons for horizontal saccades in monkey and man by parvalbumin immunostaining
TL;DR: The location of the burst neuron areas, including the burst neurons themselves, via parvalbuinin immunostaining will help in the analysis of clinical cases with slow saccades, as well as a neuropathological analysis of degenerative changes in saccadic disorders of patients.
Journal ArticleDOI
Spinocerebellar ataxia type 2: clinical presentation, molecular mechanisms, and therapeutic perspectives.
TL;DR: Based on previous experience with other polyglutamine disorders and considering the molecular basis of SCA2 pathogenesis, a nuclei-acid-based strategy focused on the specific silencing of the dominant disease allele that preserves the expression of the wild-type allele is highly desirable and might prevent toxic neurodegenerative sequelae.
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