Journal
INTRACTABLE & RARE DISEASES RESEARCH
Volume 7, Issue 4, Pages 275-279Publisher
INT RESEARCH & COOPERATION ASSOC BIO & SOCIO-SCIENCES ADVANCEMENT
DOI: 10.5582/irdr.2018.01107
Keywords
senataxin; ataxia with ocular apraxia type 2; rare mutation; Saudi Arabia; SETX
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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 a-fetoprotein. Reported here is a rare homozygous frameshift deletion c.5308_5311del, p.(G1u1770Ilefs*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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