Ataxia with vitamin E deficiency: update of molecular diagnosis.

Abstract

Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurodegenerative disease, due to mutations in TTPA gene (Arita et al. in Biochem J 306(Pt. 2):437-443, 1995; Hentati et al. in Ann Neurol 39:295-300, 1996), which encodes for alpha-TTP, a cytosolic liver protein that is presumed to function in the intracellular transport of alpha-tocopherol. This disease is characterized clinically by symptoms with often striking resemblance to those of Friedreich ataxia. The neurological symptoms include ataxia, dysarthria, hyporeflexia, and decreased vibration sense, sometimes associated with cardiomyopathy and retinitis pigmentosa (Mariotti et al. in Neurol Sci 25:130-137, 2004). Vitamin E supplementation improves symptoms and prevents disease progress (Doria-Lamba et al. in Eur J Pediatr 165(7):494-495, 2006). Over 20 mutations have been identified in patients with AVED. In the present paper we summarize the recent findings on molecular genetic of this disease including the list of the known mutations.

• Authors: I Di Donato, S Bianchi, A Federico
• Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (Neurol Sci) Vol. 31 Issue 4 Pg. 511-5 (Aug 2010) ISSN: 1590-3478 [Electronic] Italy
• PMID: 20464573 (Publication Type: Case Reports, Journal Article, Review)

Chemical References

• Antioxidants
• Vitamin E
• Tissue Plasminogen Activator

Topics

• Antioxidants (therapeutic use)
• Ataxia (diagnosis, etiology, genetics)
• DNA Mutational Analysis
• Humans
• Molecular Biology
• Neurodegenerative Diseases (diagnosis, genetics)
• Retinitis Pigmentosa (etiology, genetics)
• Tissue Plasminogen Activator (genetics)
• Vitamin E (therapeutic use)
• Vitamin E Deficiency (complications, diagnosis, genetics)