Ataxia with vitamin e deficiency in norway
Areej Elkamil1, Krisztina K Johansen2, Jan Aasly2
1Department of Neurology, St. Olavs University Hospital, Trondheim, Norway.
Journal of Movement Disorders
|January 24, 2015
Summary
Ataxia with vitamin E deficiency (AVED) affects at least 0.6 per million people in Norway. Early diagnosis and high-dose vitamin E treatment are crucial for children with childhood ataxia to prevent severe neurological deficits.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Ataxia with vitamin E deficiency (AVED) is a rare, inherited neurological disorder.
- It typically manifests in childhood with symptoms mimicking Friedreich ataxia, including ataxia, areflexia, and sensory neuropathy.
Purpose of the Study:
- To estimate the prevalence of AVED in Norway.
- To highlight the importance of early diagnosis and treatment for AVED.
Main Methods:
- Inquiry to Norwegian colleagues and review of a southern Norway prevalence study.
- Inclusion of data from a known case and two newly identified patients.
Main Results:
- One AVED case identified in a prevalence study of 171 hereditary ataxia subjects in Southeast Norway.
- Two additional AVED cases from Central and Northern Norway were described, all with early-onset ataxia and dysarthria.
- Genetic analysis revealed TTPA gene mutations (c.400C > T, c.358G > A, or c.513_514insTT), with the homozygous c.400C > T mutation correlating with the most severe presentation.
Conclusions:
- The estimated prevalence of AVED in Norway is at least 0.6 per million inhabitants.
- Routine screening for AVED in children with ataxia is recommended for early diagnosis.
- Prompt high-dose vitamin E treatment can prevent severe neurological damage in AVED patients.
