Intractable & Rare Diseases Research
Online ISSN : 2186-361X
Print ISSN : 2186-3644
Case Reports
Ataxia with ocular apraxia type 2 not responding to 4-aminopyridine: A rare mutation in the SETX gene in a Saudi patient
Hussein AlgahtaniBader ShirahRaghad AlgahtaniMuhammad Imran NaseerMohammad H. Al-QahtaniAngham Abdulrahman Abdulkareem
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2018 Volume 7 Issue 4 Pages 275-279


Ataxia with ocular apraxia type 2 is an autosomal recessive disorder caused by a mutation in the senataxin (SETX) gene. The disease is characterized by early onset cerebellar ataxia, cerebellar atrophy, axonal sensorimotor neuropathy, oculomotor apraxia, and increased levels of α-fetoprotein. Reported here is a rare homozygous frameshift deletion c.5308_5311del, p.(Glu1770Ilefs*15) in the SETX gene in a Saudi family. Ataxia with ocular apraxia type 2 was diagnosed based on the patient's history, an examination, and genetic testing. Genetic testing remains the only definitive method with which to identify the gene responsible. This is the third case report of this rare mutation in the literature. Ataxia with ocular apraxia type 2 continues to be a challenging disease to manage with no therapeutic options available to date. In the current case, the medication 4-aminopyridine was inefficacious in improving walking or balance. Further research is needed to identify potential treatments for this challenging condition.

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© 2018 International Research and Cooperation Association for Bio & Socio-Sciences Advancement
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