Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2013  |  Volume : 16  |  Issue : 2  |  Page : 269-271

Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene


1 Parkinson's Clinic of Eastern Toronto and Movement Disorders Center, Toronto, Canada
2 Department of Life Sciences, University of Toronto,Toronto, Canada

Correspondence Address:
Abdul Qayyum Rana
Parkinson's Clinic of Eastern Toronto and Movement Disorders Center, 1371 Neilson Rd., Suite 111, Toronto, M1B 4Z8
Canada
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.112495

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Ataxia, although rare, can be a symptom of many debilitating movement disorders. Hereditary ataxias are one subset of this condition and manifest when there is a genetic abnormality involved. Ataxia oculomotor apraxia type 1 (AOA1), an autosomal recessive ataxia, results from a mutation on the aprataxin gene (APTX). We characterized a novel homozygous deletion mutation (IVS4-12delT) on the APTX gene in a 14-year-old male born to consanguineous parents. This case report emphasizes the importance of investigating and increasing awareness of novel genetic mutations in order to help diagnose and further classify hereditary ataxias.


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