Skip to main content
Key Specialties
Cardiology Diabetology Endocrinology Gastroenterology Geriatrics and Gerontology Gynecology and Obstetrics Hematology Infectious Disease Internal Medicine Nephrology Neurology Oncology Pediatrics Respiratory Medicine Rheumatology Surgery
Congress Coverage
2024 ACC Congress 2023 ESMO Congress 2023 EASD Congress 2023 ERS Congress 2023 ESC Congress
Clinical Collections
Advances in Alzheimer’s

At a glance: The STEP trials

A round-up of the STEP phase 3 clinical trials evaluating semaglutide for weight loss in people with overweight or obesity.
ADVANCED SEARCH
Log in
Top
Neurological Sciences
Published in: Neurological Sciences 9/2016

01-09-2016 | Letter to the Editor

Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation

Authors: Giuseppe Zelante, Francesco Patti, Luisa Vinciguerra, Cinzia Gellera, Mario Zappia

Published in: Neurological Sciences | Issue 9/2016

Login to get access

Excerpt

Ataxia with vitamin E deficiency (AVED) is an autosomal recessive genetic disorder due to a mutation in the alpha tocopherol transfer protein (TTPA) gene which encodes for a protein involved into intracellular transfer of vitamin E. Clinical spectrum resembles Friedreich’s ataxia although AVED rarely includes cardiac involvement and impaired glucose metabolism [1, 2]. Here, we report a case of AVED due to a new compound heterozygous mutation never described before. …
Literature
1.
Marzouki N, Benomar A, Yahyaoui M, Birouk N, Elouazzani M, Chkili T, Benlemlih M (2005) Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients. Eur J Med Genet 48(1):21–28CrossRefPubMed
2.
Di Donato I, Bianchi S, Federico A (2010) Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci 31:511–515CrossRefPubMed
3.
Aguglia U, Annesi G, Pasquinelli G, Spadafora P, Gambardella A, Annesi F, Pasqua AA, Cavalcanti F, Crescibene L, Bagalà A, Bono F, Oliveri RL, Valentino P, Zappia M, Quattrone A (2000) Vitamin E deficiency due to chylomicron retention disease in Marinesco–Sjögren syndrome. Ann Neurol. 47(2):260–264CrossRefPubMed
4.
Mariotti C, Gellera C, Rimoldi M et al (2004) Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci 25:130–137CrossRefPubMed
5.
Cavalier L, Ouahchi K, Kayden HJ, Di Donato S et al (1998) Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet 62:301–310CrossRefPubMedPubMedCentral
Metadata
Title
Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation
Authors
Giuseppe Zelante
Francesco Patti
Luisa Vinciguerra
Cinzia Gellera
Mario Zappia
Publication date
01-09-2016
Publisher
Springer Milan
Published in
Neurological Sciences / Issue 9/2016
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-016-2561-6

Other articles of this Issue 9/2016

Neurological Sciences 9/2016 Go to the issue

Highlights

Highlights of the Issue 9, 2016

Brief Communication

Serotonin syndrome presenting as febrile encephalopathy with CSF pleocytosis: a report of three cases

Original Article

Association between the IL7R T244I polymorphism and multiple sclerosis risk: a meta analysis

Review Article

A review of recent literature on functional MRI and personal experience in two cases of definite vestibular migraine

Brief Communication

Mobitz type I and II atrioventricular blocks during fingolimod therapy

Original Article

Event-related potentials and cognitive performance in multiple sclerosis patients with fatigue