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KMID : 1197720150080010033
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대한파킨슨병 및 이상운동질환 학회지
2015 Volume.8 No. 1 p.33 ~ p.36
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Ataxia with Vitamin E Deficiency in Norway
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Elkamil Areej
Johansen Krisztina K.
Aasly Jan
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Abstract
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Objective: Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
Methods: We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
Results: A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4?5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
Conclusions: We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.
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KEYWORD
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Ataxia, Vitamin E, Genetic, Epidemiology
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