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Ataxia with vitamin E deficiency(VED)

MedGen UID:
341248
Concept ID:
C1848533
Disease or Syndrome
Synonyms: Ataxia with isolated vitamin E deficiency; Familial isolated deficiency of vitamin E; Friedreich-like ataxia with selective vitamin E deficiency; VED
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
SNOMED CT: Familial isolated vitamin E deficiency (702442008); Friedreich-like ataxia (702442008); Ataxia with vitamin E deficiency (702442008); Ataxia with isolated vitamin E deficiency (702442008); Friedreich ataxia phenotype with selective vitamin E deficiency (702442008)
 
Gene (location): TTPA (8q12.3)
OMIM®: 277460
Orphanet: ORPHA96

Definition

Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs. [from GeneReviews]

Additional description

From GHR
Ataxia with vitamin E deficiency is a disorder that impairs the body's ability to use vitamin E obtained from the diet. Vitamin E is an antioxidant, which means that it protects cells in the body from the damaging effects of unstable molecules called free radicals. A shortage (deficiency) of vitamin E can lead to neurological problems, such as difficulty coordinating movements (ataxia) and speech (dysarthria), loss of reflexes in the legs (lower limb areflexia), and a loss of sensation in the extremities (peripheral neuropathy). Some people with this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with age.  https://ghr.nlm.nih.gov/condition/ataxia-with-vitamin-e-deficiency

Clinical features

Ataxia
MedGen UID:
849
Concept ID:
C0007758
Sign or Symptom
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- oder overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Areflexia
MedGen UID:
115943
Concept ID:
C0234146
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hypercholesterolaemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Vitamin E deficiency
MedGen UID:
21881
Concept ID:
C0042875
Disease or Syndrome
A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)
Hyperbetalipoproteinemia
MedGen UID:
154289
Concept ID:
C0549399
Finding
An elevated concentration of low-density lipoprotein cholesterol in the blood.
Hypertriglyceridemia
MedGen UID:
279403
Concept ID:
C1522137
Laboratory or Test Result
An abnormal increase in the level of triglycerides in the blood.
Tendon xanthomatosis
MedGen UID:
450999
Concept ID:
C0221253
Disease or Syndrome
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Xanthelasma
MedGen UID:
56357
Concept ID:
C0155210
Disease or Syndrome
The presence of xanthomata in the skin of the eyelid.
Xanthelasma
MedGen UID:
56357
Concept ID:
C0155210
Disease or Syndrome
The presence of xanthomata in the skin of the eyelid.
Tendon xanthomatosis
MedGen UID:
450999
Concept ID:
C0221253
Disease or Syndrome
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAtaxia with vitamin E deficiency
Follow this link to review classifications for Ataxia with vitamin E deficiency in Orphanet.

Professional guidelines

PubMed

van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O
Eur J Neurol 2014 Apr;21(4):552-62. Epub 2014 Jan 13 doi: 10.1111/ene.12341. PMID: 24418350
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. PMID: 20050888

Recent clinical studies

Etiology

El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F
Brain 2014 Feb;137(Pt 2):402-10. Epub 2013 Dec 25 doi: 10.1093/brain/awt339. PMID: 24369383
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. PMID: 23538602
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741
Min KC, Kovall RA, Hendrickson WA
Proc Natl Acad Sci U S A 2003 Dec 9;100(25):14713-8. Epub 2003 Dec 1 doi: 10.1073/pnas.2136684100. PMID: 14657365Free PMC Article
Schuelke M, Finckh B, Sistermans EA, Ausems MG, Hübner C, von Moers A
Neurology 2000 Nov 28;55(10):1584-6. PMID: 11094124

Diagnosis

El Euch-Fayache G, Bouhlal Y, Amouri R, Feki M, Hentati F
Brain 2014 Feb;137(Pt 2):402-10. Epub 2013 Dec 25 doi: 10.1093/brain/awt339. PMID: 24369383
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. PMID: 23538602
Hentati F, El-Euch G, Bouhlal Y, Amouri R
Handb Clin Neurol 2012;103:295-305. doi: 10.1016/B978-0-444-51892-7.00018-8. PMID: 21827896
Di Donato I, Bianchi S, Federico A
Neurol Sci 2010 Aug;31(4):511-5. Epub 2010 May 13 doi: 10.1007/s10072-010-0261-1. PMID: 20464573
Koht J, Bjørnarå KA, Jørum E, Tallaksen CM
Acta Neurol Scand Suppl 2009;(189):42-5. doi: 10.1111/j.1600-0404.2009.01214.x. PMID: 19566498

Therapy

Di Donato I, Bianchi S, Federico A
Neurol Sci 2010 Aug;31(4):511-5. Epub 2010 May 13 doi: 10.1007/s10072-010-0261-1. PMID: 20464573
Koht J, Bjørnarå KA, Jørum E, Tallaksen CM
Acta Neurol Scand Suppl 2009;(189):42-5. doi: 10.1111/j.1600-0404.2009.01214.x. PMID: 19566498
Bellayou H, Dehbi H, Bourezgui M, Slassi I, Nadifi S
Pathol Biol (Paris) 2009 Jul;57(5):425-6. Epub 2008 Nov 26 doi: 10.1016/j.patbio.2008.09.014. PMID: 19038506
Roubertie A, Biolsi B, Rivier F, Humbertclaude V, Cheminal R, Echenne B
Brain Dev 2003 Sep;25(6):442-5. PMID: 12907280
Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, Ben Hamida M, Kayden H, Mebazaa R, Hentati F
Eur J Neurol 2001 Sep;8(5):477-81. PMID: 11554913

Prognosis

Bromley D, Anderson PC, Daggett V
Biochemistry 2013 Jun 18;52(24):4264-73. Epub 2013 Jun 10 doi: 10.1021/bi4001084. PMID: 23713716Free PMC Article
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741
Palau F, Espinós C
Orphanet J Rare Dis 2006 Nov 17;1:47. doi: 10.1186/1750-1172-1-47. PMID: 17112370Free PMC Article
Mariotti C, Gellera C, Rimoldi M, Mineri R, Uziel G, Zorzi G, Pareyson D, Piccolo G, Gambi D, Piacentini S, Squitieri F, Capra R, Castellotti B, Di Donato S
Neurol Sci 2004 Jul;25(3):130-7. doi: 10.1007/s10072-004-0246-z. PMID: 15300460
Cooper JM, Schapira AH
Biofactors 2003;18(1-4):163-71. PMID: 14695932

Clinical prediction guides

Iwasa K, Shima K, Komai K, Nishida Y, Yokota T, Yamada M
J Neurol Sci 2014 Oct 15;345(1-2):228-30. Epub 2014 Jul 9 doi: 10.1016/j.jns.2014.07.001. PMID: 25066259
Bromley D, Anderson PC, Daggett V
Biochemistry 2013 Jun 18;52(24):4264-73. Epub 2013 Jun 10 doi: 10.1021/bi4001084. PMID: 23713716Free PMC Article
Zingg JM, Meydani M, Azzi A
Biofactors 2012 Jan-Feb;38(1):24-33. Epub 2012 Jan 27 doi: 10.1002/biof.198. PMID: 22281871
Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M
Neurogenetics 2010 Feb;11(1):1-12. Epub 2009 May 14 doi: 10.1007/s10048-009-0196-y. PMID: 19440741
Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, Ben Hamida M, Kayden H, Mebazaa R, Hentati F
Eur J Neurol 2001 Sep;8(5):477-81. PMID: 11554913

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