"Management of ataxia with vitamin E deficiency is with lifelong high-dose vitamin E supplementation and supportive measures (e.g. physiotherapy) 3,4. The prognosis is variable, however, patients generally slowly improve with vitamin E supplementation, although improvement may be incomplete 3,4. If vitamin E supplementation is provided to pre-symptomatic patients, the clinical syndrome may not develop 1."
"Ataxia with vitamin E deficiency is an autosomal recessive condition caused by mutation to the alpha tocopherol transfer protein (TTPA) gene, on chromosome 8 1-5. This gene encodes for α-TTP, a protein which is involved in the intrahepatic integration of an active isomer of vitamin E, α-tocopherol (RRR-α-tocopherol), into very low density lipoproteins 1-5."
"Thus, if there are biallelic mutations in TTPA, α-tocopherol is not incorporated into very low density lipoproteins and is therefore not released into the peripheral circulation 1-5. The resultant hypovitaminosis E leads to loss of the normal antioxidant functioning of vitamin E, particularly prominent in the cerebellum and peripheral nerves, leading to neurodegeneration and the ataxic clinical phenotype observed 1-5."
"Ataxia with vitamin E deficiency is an autosomal recessive condition caused by mutation to the alpha tocopherol transfer protein (TTPA) gene, on chromosome 8 1-5. This gene encodes for α-TTP, a protein which is involved in the intrahepatic integration of an active isomer of vitamin E, α-tocopherol (RRR-α-tocopherol), into very low density lipoproteins 1-5."
"Ataxia with vitamin E deficiency is an autosomal recessive condition caused by mutation to the alpha tocopherol transfer protein (TTPA) gene, on chromosome 8 1-5. This gene encodes for α-TTP, a protein which is involved in the intrahepatic integration of an active isomer of vitamin E, α-tocopherol (RRR-α-tocopherol), into very low density lipoproteins 1-5."
"Friedreich ataxia"