First case of ataxia with isolated vitamin E deficiency in the Netherlands.
Parkinsonism Relat Disord
; 13(5): 315-6, 2007 Jul.
Article
in En
| MEDLINE
| ID: mdl-17049453
ABSTRACT
We present a 36-year-old Dutch woman who suffered from a progressive form of cerebellar ataxia since school age. In her childhood she was diagnosed with Friedreich's ataxia. Genetic analysis of the frataxin gene at 34 years of age, however, had revealed no abnormal GAA triplet expansion. We identified two point mutations in the alpha-tocopherol transport protein (alpha-TTP) gene on chromosome 8q13, and the diagnosis ataxia with isolated vitamin E deficiency (AVED) was made. This report illustrates the diagnosis AVED and its relation to vitamin E metabolism. It is important to evaluate previously made diagnoses when newly developed tests can be performed for confirmation.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ataxia
/
Vitamin E Deficiency
Type of study:
Prognostic_studies
Limits:
Adult
/
Female
/
Humans
Country/Region as subject:
Europa
Language:
En
Journal:
Parkinsonism Relat Disord
Journal subject:
NEUROLOGIA
Year:
2007
Document type:
Article
Affiliation country:
Netherlands