Abstract Details

Title Ataxia with Oculomotor Apraxia in a Mexican Female with a Novel Heterozygous Mutation in the SEXT Gene. Many Answers to the Same Question

Topic Movement Disorders

Presentation(s) P07 - (-)

Poster/Presentation
Number 207

Objective

Background BACKGROUND: The ataxias with oculomotor apraxia include at least four distinct genetic entities: ataxia-telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia type 1 and type 2. The responsible genes, ATM, MRE11, APTX and SETX respectively, are implicated in DNA-break repair mechanisms. Ataxia with Oculomotor Apraxia 2 is an autosomal recessive disorder caused by mutations in the SETX gene characterized by progressive cerebellar ataxia, peripheral neuropathy, cerebellar atrophy, oculomotor apraxia and elevated alpha fetoprotein.

Design/Methods DESIGN/METHODS: A detailed clinical history and physical examination was performed, routine laboratory tests, nerve conduction studies and brain imaging (MRI) as well as a complete screening for SCA mutations.

Results RESULTS: The patient harbors a single novel disease causing allele c.5958delG in the SETX gene which predicts an abnormal protein.

Conclusions CONCLUSIONS: Our case shows all typical findings of an Ataxia with Oculomotor apraxia type 2 however only one mutation was found by the complete sequencing of the SEXT gene. Some explanations could be put forward to explain this phenotype; first, she can have a new mutation outside of what is usually explored by sequencing the exon and exon-intron boundaries, she may be a manifesting carrier or her phenotype may be due to a mutation on another gene that has not yet been described. The identification of this novel mutation expands the array of SETX variants known to cause disease.

Authors/Disclosures
Jose Ildefonso Rodriguez Moreno, MD (New England Neurological Associates) PRESENTER	Dr. Rodriguez Moreno has nothing to disclose.
Ildefonso Rodriguez-Leyva, MD, PhD, FAAN (Facultad de Medicina, Universidad Autonoma de San Luis Potosi)	Dr. Rodriguez-Leyva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Rodriguez-Leyva has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Laboratorios Columbia.
	No disclosure on file
Anand Viswanathan, MD (Massachusetts General Hospital)	Dr. Viswanathan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Alnylam Pharmaceuticals. Dr. Viswanathan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Viswanathan has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche Pharmaceuticals.

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