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
Autophagy in Spinocerebellar ataxia type 2, a dysregulated pathway, and a target for therapy.
Adriana Marcelo,Inês T. Afonso,Ricardo Afonso-Reis,David V. C. Brito,Rafael G. Costa,Ana Rosa,João Alves-Cruzeiro,Benedita Ferreira,Carina Henriques,Rui Jorge Nobre,Carlos A. Matos,Luís Pereira de Almeida,Clévio Nóbrega +12 more
TL;DR: In this paper, the role of autophagy in SCA2 pathogenesis and its suitability as a target for therapeutic intervention was investigated, and the authors developed and characterized a new striatal lentiviral mouse model that resembles several neuropathological hallmarks observed in scinocerebellar ataxia type 2 (SCA2) including formation of aggregates, neuronal marker loss, cell death and neuroinflammation.
Journal ArticleDOI
Eye movement changes in autosomal dominant spinocerebellar ataxias.
Francesca Rosini,Elena Pretegiani,Carla Battisti,Maria Teresa Dotti,Antonio Federico,Alessandra Rufa +5 more
TL;DR: Overall, the findings reported indicate that oculomotor analysis could be of help in differential diagnosis among SCAs and contribute to clarify the role of brain structures, particularly the cerebellum, in oculumotor control.
Journal ArticleDOI
Movement disorders in the tropics
TL;DR: Taking into account the diverse etiologies of movement disorders in the tropics, movement disorders with a nutritional basis such as the infantile tremor syndrome, seasonal ataxia and tropical ataxic neuropathy, and manganese neurotoxicity are reviewed.
Journal ArticleDOI
Clinical profile and genetic correlation of patients with spinocerebellar ataxia: A study from a tertiary care centre in Eastern India.
Debabrata Pulai,Deb Shankar Guin,Kalyan B Bhattacharyya,Goutam Ganguly,Anindita Joardar,Sarnava Roy,Atanu Biswas,Alak Pandit,Arijit Roy,Asit Kumar Senapati +9 more
TL;DR: A cross-sectional study conducted at Bangur Institute of Neurosciences, Kolkata showed SCA-2 is the most common variety of SCA and genotypic-phenotypic correlation was observed inSCA-1,2,6 and 12 patients.
Book ChapterDOI
Eye Movement Abnormalities in Spinocerebellar Ataxias
TL;DR: The worldwide prevalence of SCAs is estimated near to 5-7 cases per 100 000 inhabitants but it can be higher in some regions due to foundational effects such as SCA2 in Holguin, Cuba and SCA3 in Azores islands, Portugal.
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