ABSTRACT
Ataxia with vitamin E (Vit E) defciency (AVED) is an autosomal recessive disorder caused by mutations of the alpha tocopherol transfer protein gene. The Friedreich ataxia phenotype is the most frequent clinical presentation. In AVED patients, serum Vit E levels are very low in the absence of intestinal malabsorption. As Vit E is a major antioxidant agent, Vit E deficiency is supposed to be responsible for the pathological process. Twenty-four AVED patients were fully investigated (electromyography, nerve conduction velocity (NVC) studies, somatosensory evoked potentials, cerebral computed tomography scan, sural nerve biopsy, genetic studies) and supplemented with Vit E (800 mg daily) during a 1-year period. Clinical evaluation was mainly based on the Ataxia Rating Scale (ARS) for cerebellar ataxia assessment and serum Vit E levels were monitored. Serum Vit E levels normalized and ARS scores decreased moderately but significantly suggesting clinical improvement. Better results were noted with mean disease duration < or = 15 years. Reflexes remained abolished and posterior column disturbances unchanged. Vitamin E supplementation in AVED patients stabilizes the neurological signs and can lead to mild improvement of cerebellar ataxia, especially in early stages of the disease.
Subject(s)
Cerebellar Ataxia/drug therapy , Cerebellar Ataxia/genetics , Vitamin E Deficiency/drug therapy , Vitamin E Deficiency/genetics , Vitamin E/therapeutic use , Adult , Electrophysiology , Evoked Potentials, Somatosensory/physiology , Female , Humans , Male , Neural Conduction/drug effects , Treatment OutcomeSubject(s)
Anticholesteremic Agents/therapeutic use , Fenofibrate/therapeutic use , Hypercholesterolemia/drug therapy , Lovastatin/analogs & derivatives , Adult , Aged , Cholesterol, HDL/blood , Cholesterol, LDL/blood , Female , Humans , Hypercholesterolemia/blood , Lovastatin/therapeutic use , Male , Middle Aged , Simvastatin , Triglycerides/bloodABSTRACT
Imerslund-Najman-Gräsbeck anemia is an infrequent disease with an autosomal recessive pattern of inheritance. The characteristic anomaly is selective malabsorption of vitamin B12 by the ileal mucosa. Diagnosis rests on a positive family history and on the demonstration of megaloblastic anemia with proteinuria. The proteinuria is due to glomerular dysfunction with mesangial proliferation. Management rests on lifelong parenteral administration of vitamin B12. A case of Imerslund anemia with a favorable outcome under vitamin B12 treatment is reported.
