Progressive ataxia associated with ocular apraxia type 1 (AOA1) with a presence of a novel mutation on the aprataxin gene |
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Authors: | Abdul Qayyum Rana Osama A. Khan Raza Akthar |
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Affiliation: | Parkinson’s Clinic of Eastern Toronto and Movement Disorders Center, Toronto, Canada;1.Department of Life Sciences, University of Toronto,Toronto, Canada |
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Abstract: | 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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Keywords: | AOA1 aprataxin gene hereditary ataxia mutation oculomotor apraxia type 1 |
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