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Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS): Case Report of a Novel Nonsense Mutation in the SACS Gene

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Annals of Indian Academy of Neurology ¦ Volume 23 ¦ Issue 3 ¦ May-June 2020 395 3. Pothier DD, Rutka JA, Ranalli PJ. Double impairment: Clinical identification of 33 cases… Click to show full abstract

Annals of Indian Academy of Neurology ¦ Volume 23 ¦ Issue 3 ¦ May-June 2020 395 3. Pothier DD, Rutka JA, Ranalli PJ. Double impairment: Clinical identification of 33 cases of cerebellar ataxia with bilateral vestibulopathy. Otolaryngol Head Neck Surg 2012;146:804-8. 4. Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, et al. Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS): A review of the clinical features and video-oculographic diagnosis. Ann N Y Acad Sci 2011;1233:139-47. 5. Szmulewicz DJ, Roberts L, McLean CA, MacDougall HG, Michael Halmagyi G, Storey E. Proposed diagnostic criteria for cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS). Neurol Clin Pract 2016;6:61-8. 6. Szmulewicz DJ, McLean CA, MacDougall HG, Roberts L, Storey E, This is an open access journal, and articles are distributed under the terms of the Creative Commons

Keywords: neurology; cerebellar ataxia; ataxia; spastic ataxia; autosomal recessive; recessive spastic

Journal Title: Annals of Indian Academy of Neurology
Year Published: 2020

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