Skip Navigation
Skip to contents

JMD : Journal of Movement Disorders

OPEN ACCESS
SEARCH
Search

Author index

Page Path
HOME > Browse Articles > Author index
Search
Jan Aasly 1 Article
Ataxia with Vitamin E Deficiency in Norway
Areej Elkamil, Krisztina K. Johansen, Jan Aasly
J Mov Disord. 2015;8(1):33-36.   Published online January 31, 2015
DOI: https://doi.org/10.14802/jmd.14030
  • 13,751 View
  • 183 Download
  • 20 Web of Science
  • 18 Crossref
AbstractAbstract PDF
Objective Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive neurological disorder which usually starts in childhood. The clinical presentation is very similar to Friedreich ataxia, most patients have progressive truncal and extremity ataxia, areflexia, positive Babinski sign, dysarthria and sensory neuropathy.
Methods We made an inquiry to our colleagues in Norway, we included information from a prevalence study published southern Norway and added data from our own known case.
Results A newly published prevalence study of hereditary ataxias (total of 171 subjects) found only one subject with AVED in Southeast Norway. We describe two more patients, one from the Central part and one from the Northern part of Norway. All 3 cases had age of onset in early childhood (age of 4–5 years) and all experienced gait ataxia and dysarthria. The genetic testing confirmed that they had pathogenic mutations in the α-tocopherol transfer protein gene (TTPA). All were carriers of the non-sense c.400C > T mutation, one was homozygous for that mutation and the others were compound heterozygous, either with c.358G > A or c.513_514insTT. The homozygous carrier was by far the most severely affected case.
Conclusions We estimate the occurrence of AVED in Norway to be at least 0.6 per million inhabitants. We emphasize that all patients who develop ataxia in childhood should be routinely tested for AVED to make an early diagnosis for initiating treatment with high dose vitamin E to avoid severe neurological deficits.

Citations

Citations to this article as recorded by  
  • A subtle presentation of a treatable cause of predominant hemidystonia with minimal ataxia
    S.M. Wrigley, S.S. O'Sullivan, A.M. Ryan
    Parkinsonism & Related Disorders.2023; 107: 104909.     CrossRef
  • Genetic heterogeneity within a consanguineous family involving TTPA and SETX genes
    Cyrine Jeridi, Amine Rachdi, Fatma Nabli, Zacharia Saied, Rania Zouari, Dina Ben Mohamed, Mariem Ben Said, Saber Masmoudi, Samia Ben Sassi, Rim Amouri
    Journal of Neurogenetics.2023; 37(4): 124.     CrossRef
  • Vitamin E – a scoping review for Nordic Nutrition Recommendations 2023
    Essi Hantikainen, Ylva Trolle Lagerros
    Food & Nutrition Research.2023;[Epub]     CrossRef
  • Autosomal recessive adult onset ataxia
    Nataša Dragašević-Mišković, Iva Stanković, Andona Milovanović, Vladimir S. Kostić
    Journal of Neurology.2022; 269(1): 504.     CrossRef
  • Vitamin E in foodstuff: Nutritional, analytical, and food technology aspects
    Farah Zaaboul, YuanFa Liu
    Comprehensive Reviews in Food Science and Food Safety.2022; 21(2): 964.     CrossRef
  • Discovery of Therapeutics Targeting Oxidative Stress in Autosomal Recessive Cerebellar Ataxia: A Systematic Review
    Sze Yuen Lew, Michael Weng Lok Phang, Pit Shan Chong, Jaydeep Roy, Chi Him Poon, Wing Shan Yu, Lee Wei Lim, Kah Hui Wong
    Pharmaceuticals.2022; 15(6): 764.     CrossRef
  • Clinical and genetic study of ataxia with vitamin E deficiency: A case report
    Lin-Wei Zhang, Bing Liu, Dan-Tao Peng
    World Journal of Clinical Cases.2022; 10(23): 8271.     CrossRef
  • Fat-soluble vitamins: updated review of their role and orchestration in human nutrition throughout life cycle with sex differences
    Rana A. Youness, Alyaa Dawoud, Omar ElTahtawy, Mohamed A. Farag
    Nutrition & Metabolism.2022;[Epub]     CrossRef
  • Treatable Ataxias: How to Find the Needle in the Haystack?
    Albert Stezin, Pramod Kumar Pal
    Journal of Movement Disorders.2022; 15(3): 206.     CrossRef
  • Ataxia with vitamin E deficiency in the Philippines : A case report of two siblings
    Ma. Daisy Tabuena, Ryoma Morigaki, Ryosuke Miyamoto, Hideo Mure, Nobuaki Yamamoto, Kazuhisa Miyake, Taku Matsuda, Yuishin Izumi, Yasushi Takagi, Rollin P. Tabuena, Toshitaka Kawarai
    The Journal of Medical Investigation.2021; 68(3.4): 400.     CrossRef
  • Essential tremor: the most common form of cerebellar degeneration?
    Elan D. Louis, Phyllis L. Faust
    Cerebellum & Ataxias.2020;[Epub]     CrossRef
  • Nutrition Can Help DNA Repair in the Case of Aging
    Julia Kaźmierczak-Barańska, Karolina Boguszewska, Boleslaw T. Karwowski
    Nutrients.2020; 12(11): 3364.     CrossRef
  • Two infants with abetalipoproteinemia: Classic versus atypical presentation
    Noparat Prachasitthisak, Pornthep Tanpowpong, Thipwimol Tim‐Aroon, Suporn Treepongkaruna, Nalinee Chongviriyaphan, Niyada Vithayasai, Orawan Iamopas, Duangrurdee Wattanasirichaigoon
    Pediatrics International.2019; 61(5): 508.     CrossRef
  • A clinical diagnostic algorithm for early onset cerebellar ataxia
    R. Brandsma, C.C. Verschuuren-Bemelmans, D. Amrom, N. Barisic, P. Baxter, E. Bertini, L. Blumkin, V. Brankovic-Sreckovic, O.F. Brouwer, K. Bürk, C.E. Catsman-Berrevoets, D. Craiu, I.F.M. de Coo, J. Gburek, C. Kennedy, T.J. de Koning, H.P.H. Kremer, R. Kum
    European Journal of Paediatric Neurology.2019; 23(5): 692.     CrossRef
  • Subacute combined degeneration associated with vitamin E deficiency due to small bowel obstruction
    Jong Burm Jung, Yuntae Kim, Kiyoung Oh, Soo A Kim, Joung Hyun Doh, Hye Jeong Oh, Jin Myoung Seok
    Medicine.2019; 98(36): e17052.     CrossRef
  • A Review on the Relationship between Tocotrienol and Alzheimer Disease
    Kok-Yong Chin, Shu Shen Tay
    Nutrients.2018; 10(7): 881.     CrossRef
  • Neurodegeneration bei Vitamin-E-Mangel
    S. Neudecker
    DGNeurologie.2018; 1(2): 115.     CrossRef
  • Ataxia in children: think about vitamin E deficiency ! (comment on: ataxia in children: early recognition and clinical evaluation)
    H. Rahmoune, N. Boutrid, M. Amrane, M. C. Chekkour, B. Bioud
    Italian Journal of Pediatrics.2017;[Epub]     CrossRef

JMD : Journal of Movement Disorders Twitter
Close layer
TOP