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  Vol. 59 No. 12, December 2002 TABLE OF CONTENTS
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A Family With Spinocerebellar Ataxia Type 8 Expansion and Vitamin E Deficiency Ataxia

Elena Cellini, PhD; Silvia Piacentini, MD; Benedetta Nacmias, PhD; Paolo Forleo, MD; Andrea Tedde, PhD; Silvia Bagnoli, PhD; Monica Ciantelli, MD; Sandro Sorbi, MD

Arch Neurol. 2002;59:1952-1953.

Background  Ataxia with vitamin E deficiency is a recessive autosomal neurodegenerative disorder resembling the Friedreich ataxia phenotype but is due to mutations in the {alpha}-tocopherol transfer protein (TTPA) gene. In a recent article, we described a patient with ataxia carrying reduced serum vitamin E levels and showing CTA/CTG expansions of 320 triplet repeats in the SCA8 gene.

Objectives  To perform a screening of the TTPA gene in the patient and to evaluate the effects of treatment with vitamin E on the patient's neurologic disturbances.

Patient and Methods  We performed a single-strand conformation polymorphism and nucleotide sequence analysis of the 5 exons of the TTPA gene in the patient's family members.

Results  The results indicated the patient to be a compound heterozygote for 2 mutations (in exon 3), each transmitted by one of the 2 parents, yielding a nonfunctional protein.

Conclusions  We describe for the first time, to our knowledge, a mutated form of the TTPA gene in a patient also carrying an expansion in the SCA8 gene. The lack of improvement in the patient's symptoms on supplementation with {alpha}-tocopherol suggests that the SCA8 mutations may act in the neurodegeneration process, worsening the neurologic signs caused by the vitamin E deficit, and it could be speculated that the co-occurrence of mutant alleles for 2 distinct loci may influence the clinical course of the disease.


From the Department of Neurological and Psychiatric Sciences, University of Florence, Florence, Italy.



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