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Friedreich's ataxia-vitamin E responsive type. The chromosome 8 locus
S Belal1, F Hentati, C Ben Hamida
1Institut National de Neurologie, Tunis, Tunisia.
Clinical Neuroscience (New York, N.Y.)
|January 1, 1995
Summary
Friedreich
Area of Science:
- Neuroscience
- Genetics
Background:
- Friedreich's ataxia (FA) is the most common autosomal recessive ataxia.
- FA typically presents with early onset, absent tendon reflexes, sensory loss, and cerebellar and Babinski signs.
Purpose of the Study:
- To investigate the genetic basis of FA in families with classical features.
- To identify potential alternative diagnoses or genetic factors contributing to FA-like symptoms.
Main Methods:
- Screening of patients from families with classical FA features.
- Exclusion of the known FA locus on chromosome 9.
- Assessment for association with isolated vitamin E deficiency.
Main Results:
- Some families with FA features were excluded from the FA locus on chromosome 9.
- These families showed an association with isolated vitamin E deficiency.
- Clinical presentation in vitamin E deficient patients closely resembled FA.
Conclusions:
- Isolated vitamin E deficiency can mimic Friedreich's ataxia clinically.
- Testing vitamin E levels is crucial for patients suspected of having FA.
- Alpha-tocopherol supplementation may be an effective treatment in early stages of vitamin E deficiency mimicking FA.