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Disease name
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Friedreich-like ataxia with selective vitamin E deficiency
Friedreich-like ataxia with selective vitamin E deficiency
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Marker gene
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Gene symbol
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Chromosome location
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Protein name
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TTPA
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8q13 |
Alpha-tocopherol transfer protein |
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Prevalence
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미상 |
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Inheritance
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상염색체 열성 |
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Age of onset
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소아기 |
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ICD 10 code
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E56.0, G11.1 |
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MIM number
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277460
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Synonym
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AVED |
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Familial isolated vitamin E deficiency |
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Isolated vitamin E deficiency |
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Summary
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The manifestations of isolated ataxia with vitamin E deficiency are very similar to those of Friedreich ataxia. The mode of transmission - autosomal recessive - is also the same. In France it is much rarer than Friedreich ataxia and it equally affects males and females. Symptoms include difficulties to coordinate movements and dysarthria, associated with other neurological signs (loss of reflexes, decrease of deep sensation, pes cavus and scoliosis). The heart is rarely affected. Diagnosis is based on the dosage of vitamin E whose plasma level is very low. The responsible gene is known but its analysis is not required to establish the diagnosis. When left untreated, patients` neurological condition progressively worsens, leading to autonomy loss. Substitutive treatment with high doses of vitamin E may slow or even stop progression of the disease. Treatment should be taken indefinitely and associated with functional rehabilitation. |
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