ATAXIA OCULOMOTOR APRAXIA TYPE 1 IN THE SIBLINGS OF A FAMILY: A NOVEL MUTATION

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KARIMZADEH PARVANEH; Khayatzadeh Kakhki Simin; Esmail Nejad Shaghayegh Sadat; houshmand Masood; GHOFRANI MOHAMMAD

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Journal Paper

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Journal: Iranian Journal of Child Neurology Year:2017 | Volume:11 | Issue:1 Page(s): 0-0

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Title

ATAXIA OCULOMOTOR APRAXIA TYPE 1 IN THE SIBLINGS OF A FAMILY: A NOVEL MUTATION

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Keywords

ATAXIA-OCULOMOTOR APRAXIA

AOA1

APTX GENE

NEW MUTATION

Abstract

Although AOA1 (ataxia oculomotor apraxia1) is one of the most commoncauses of autosomal recessive cerebellar ataxias in Japanese population, it isreported from all over the world. The clinical manifestations are similar toataxia telangiectasia in which non-neurological manifestations are absent andinclude almost 10% of autosomal recessive cerebellar ataxias. Dysarthria andgait disorder are the most two common and typical manifestations. Oculomotorapraxia is usually seen a few years after the manifestations start. APTX GENEon 9p13.3 chromosome is expressed in the cells of all human body tissues anddifferent mutations had been discovered. Here we report two siblings (a girl anda boy) of consanguineous parents visited at Mofid Pediatrics Hospital in 2015, with history of gait ataxia, titubation, tremor, and oculomotor apraxia around fiveyr old and after that. The brother showed symptoms of disease earlier and moresevere than his sister did. After ruling out the common etiologies of progressiveataxia, we did genetic study for AOA1 that showed a homozygous frameshiftmutation as c.418_418 del was found. This mutation was not reported before sothis was a NEW MUTATION in APTX GENE.

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APA: Copy

KARIMZADEH, PARVANEH, Khayatzadeh Kakhki, Simin, Esmail Nejad, Shaghayegh Sadat, houshmand, Masood, & GHOFRANI, MOHAMMAD. (2017). ATAXIA OCULOMOTOR APRAXIA TYPE 1 IN THE SIBLINGS OF A FAMILY: A NOVEL MUTATION. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), 11(1), 0-0. SID. https://sid.ir/paper/303514/en

Vancouver: Copy

KARIMZADEH PARVANEH, Khayatzadeh Kakhki Simin, Esmail Nejad Shaghayegh Sadat, houshmand Masood, GHOFRANI MOHAMMAD. ATAXIA OCULOMOTOR APRAXIA TYPE 1 IN THE SIBLINGS OF A FAMILY: A NOVEL MUTATION. IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN)[Internet]. 2017;11(1):0-0. Available from: https://sid.ir/paper/303514/en

IEEE: Copy

PARVANEH KARIMZADEH, Simin Khayatzadeh Kakhki, Shaghayegh Sadat Esmail Nejad, Masood houshmand, and MOHAMMAD GHOFRANI, “ATAXIA OCULOMOTOR APRAXIA TYPE 1 IN THE SIBLINGS OF A FAMILY: A NOVEL MUTATION,” IRANIAN JOURNAL OF CHILD NEUROLOGY (IJCN), vol. 11, no. 1, pp. 0–0, 2017, [Online]. Available: https://sid.ir/paper/303514/en

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