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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

Most individuals with ataxia with vitamin E deficiency (AVED) present at puberty; common characteristics of the disease include progressive ataxia, clumsiness of the hands, loss of proprioception (especially of vibration and joint position sense), and areflexia. Other features often observed are dysdiadochokinesia, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different mutations; 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

Conduction disorder of the heart
MedGen UID:
78114
Concept ID:
C0264886
Disease or Syndrome
Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities
Diabetes Mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Abnormality of visual evoked potentials
MedGen UID:
105509
Concept ID:
C0522214
Finding
An anomaly of visually evoked potentials (VEP), which are electrical potentials, initiated by brief visual stimuli, which are recorded from the scalp overlying the visual cortex.
Abnormality of retinal pigmentation
MedGen UID:
350681
Concept ID:
C1862475
Finding
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Limitation in visual functions.
Difficulties with night vision
MedGen UID:
892421
Concept ID:
C4020885
Finding
Inability to see well at night or in poor light.
Pes cavus
MedGen UID:
675590
Concept ID:
C0728829
Congenital Abnormality
The presence of an unusually high plantar arch. Also called high instep, pes cavus refers to a distinctly hollow form of the sole of the foot when it is bearing weight.
Hypertrophic cardiomyopathy
MedGen UID:
2881
Concept ID:
C0007194
Disease or Syndrome
Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.
Conduction disorder of the heart
MedGen UID:
78114
Concept ID:
C0264886
Disease or Syndrome
Abnormality in rhythm of heartbeat, including rate, regularity, and/or sequence of activation abnormalities
Neurological speech impairment
MedGen UID:
11531
Concept ID:
C0037822
Disease or Syndrome
A term referring to disorders characterized by the disruption of normal speech. It includes stuttering, lisps, dysarthria and voice disorders.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
Tremors are unintentional trembling or shaking movements in one or more parts of your body. Most tremors occur in the hands. You can also have arm, head, face, vocal cord, trunk, and leg tremors. Tremors are most common in middle-aged and older people, but anyone can have them. The cause of tremors is a problem in the parts of the brain that control muscles in the body or in specific parts of the body, such as the hands. They commonly occur in otherwise healthy people. They may also be caused by problems such as. -Parkinson's disease. -Dystonia. -Multiple sclerosis. -Stroke. -Traumatic brain injury. -Alcohol abuse and withdrawal. -Certain medicines. Some forms are inherited and run in families. Others have no known cause. . There is no cure for most tremors. Treatment to relieve them depends on their cause. In many cases, medicines and sometimes surgical procedures can reduce or stop tremors and improve muscle control. Tremors are not life threatening. However, they can be embarrassing and make it hard to perform daily tasks. NIH: National Institute of Neurological Disorders and Stroke.
Absent tendon reflex
MedGen UID:
548673
Concept ID:
C0278124
Finding
Absence of neurologic reflexes such as the knee-jerk reaction.
Hemiplegia/hemiparesis
MedGen UID:
852561
Concept ID:
C0375206
Finding
Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a severe or complete loss of strength, whereas hemiparesis refers to a relatively mild loss of strength.
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Sign or Symptom
Gait disturbance
MedGen UID:
107895
Concept ID:
C0575081
Finding
The term gait disturbance can refer to any disruption of the ability to walk. In general, this can refer to neurological diseases but also fractures or other sources of pain that is triggered upon walking. However, in the current context gait disturbance refers to difficulty walking on the basis of a neurological or muscular disease.
Loss of developmental milestones
MedGen UID:
373115
Concept ID:
C1836550
Finding
Loss of developmental skills, as manifested by loss of developmental milestones.
Ataxia
MedGen UID:
504767
Concept ID:
CN001146
Finding
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).
Hypertonia
MedGen UID:
10132
Concept ID:
C0026826
Finding
A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
Reduced strength of muscles.
Denervation atrophy of muscle
MedGen UID:
78748
Concept ID:
C0270948
Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Diabetes Mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.
Hypercholesterolaemia
MedGen UID:
5687
Concept ID:
C0020443
Disease or Syndrome
An increased concentration of cholesterol in the blood.
Hyperbetalipoproteinemia
MedGen UID:
154289
Concept ID:
C0549399
Finding
Hypertriglyceridemia
MedGen UID:
279403
Concept ID:
C1522137
Laboratory or Test Result
An abnormal increase in the level of triglycerides in the blood.
Vitamin E deficiency
MedGen UID:
775755
Concept ID:
CN117406
Finding
Scoliosis
MedGen UID:
195976
Concept ID:
C0700208
Finding
The presence of an abnormal lateral curvature of the spine.
Tendon xanthomatosis
MedGen UID:
506410
Concept ID:
CN116608
Finding
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:
506410
Concept ID:
CN116608
Finding
The presence of xanthomas (intra-and extra-cellular accumulations of cholesterol) extensor tendons (typically over knuckles, Achilles tendon, knee, and elbows).
Diabetes Mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
Diabetes is a disease in which your blood glucose, or blood sugar, levels are too high. Glucose comes from the foods you eat. Insulin is a hormone that helps the glucose get into your cells to give them energy. With type 1 diabetes, your body does not make insulin. With type 2 diabetes, the more common type, your body does not make or use insulin well. Without enough insulin, the glucose stays in your blood. You can also have prediabetes. This means that your blood sugar is higher than normal but not high enough to be called diabetes. Having prediabetes puts you at a higher risk of getting type 2 diabetes. Over time, having too much glucose in your blood can cause serious problems. It can damage your eyes, kidneys, and nerves. Diabetes can also cause heart disease, stroke and even the need to remove a limb. Pregnant women can also get diabetes, called gestational diabetes. A blood test can show if you have diabetes. Exercise, weight control and sticking to your meal plan can help control your diabetes. You should also monitor your glucose level and take medicine if prescribed. . NIH: National Institute of Diabetes and Digestive and Kidney Diseases.

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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 24369383
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. [Epub ahead of print] PMID: 23538602
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. [Epub ahead of print] 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
Hammans SR, Kennedy CR
J Neurol Neurosurg Psychiatry 1998 Mar;64(3):368-70. PMID: 9527151Free PMC Article

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. [Epub ahead of print] PMID: 24369383
Jayadev S, Bird TD
Genet Med 2013 Sep;15(9):673-83. Epub 2013 Mar 28 doi: 10.1038/gim.2013.28. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] PMID: 19440741
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
Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S
Arch Neurol 2002 Dec;59(12):1952-3. PMID: 12470185

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. [Epub ahead of print] PMID: 25066259
Bromley D, Anderson PC, Daggett V
Biochemistry 2013 Jun 18;52(24):4264-73. Epub 2013 Jun 10 doi: 10.1021/bi4001084. [Epub ahead of print] 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. [Epub ahead of print] 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. [Epub ahead of print] 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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