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.
Download full-text PDF |
Source |
---|---|
http://dx.doi.org/10.1046/j.1468-1331.2001.00273.x | DOI Listing |
Clin Genet
December 2024
Fetal Health Research Center, Hope Generation Foundation, Tehran, Iran.
Ataxia with Vitamin E Deficiency (AVED) is a rare autosomal recessive genetic disorder, that caused by pathogenic variants in the TTPA gene, which encodes the alpha-tocopherol transfer protein. This study investigates eight patients from three consanguineous Iranian families, using exome sequencing (ES) and Sanger sequencing to identify novel pathogenic variants in the TTPA gene. Two variants were identified: c.
View Article and Find Full Text PDFZhonghua Yi Xue Yi Chuan Xue Za Zhi
November 2024
Reproductive Medicine Center, Zhongnan Hospital of Wuhan University, Wuhan, Hubei 430071, China.
Objective: To explore the clinical phenotype and genetic characteristics of a patient with Ataxia and vitamin E deficiency syndrome (AVED) due to a variant of TTPA gene.
Methods: A patient diagnosed with AVED (proband), intended for assisted reproductive technology for pregnancy in Zhongnan Hospital of Wuhan University in July 2023, was selected as research subject. Clinical data of the proband were collected, and 2 mL of peripheral venous blood samples were collected from the proband and her father and siblings for serum vitamin E level testing.
Int J Mol Sci
May 2024
Department of Pathology, Albert Szent-Györgyi Medical Center, Faculty of Medicine, University of Szeged, 6720 Szeged, Hungary.
Pathogenic variants in the gene lead to a systemic disease with karyomegalic interstitial nephritis (KIN) at the forefront clinically. The phenotypic-genotypic features of a mutation-related disease involving five members of a Hungarian Caucasian family are presented. Each had adult-onset chronic kidney disease of unknown cause treated with renal replacement therapy and elevated liver enzymes.
View Article and Find Full Text PDFJ Neurogenet
March 2024
Molecular Neurobiology and Neuropathology Department, National Institute Mongi Ben Hamida of Neurology, Tunisia.
Neurogenetics
January 2024
Department of Ophthalmology, IHU FOReSIGHT, Hôpital Universitaire Pitié-Salpêtrière, Sorbonne Université, 47-83 Boulevard de l'Hôpital, 75013, Paris, France.
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!