Ataxia with selective vitamin E deficiency
AVED

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Prevalence (%) of clinical parameters based on data from 2 references describing 32 individuals







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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Areflexia nervous 100 % 15300460 2011-10-19
Pes cavus skeletal 94 % 15300460 2011-10-11
Dysarthria nervous 88 % 15300460 2011-10-11
Babinski's sign nervous 86 % 15300460 2011-10-11
Ataxia nervous 75 % 15300460 2011-10-11
Head titubation nervous 73 % 15953402 2011-10-11
Visual impairment nervous 73 % 15953402 2011-10-11
Scoliosis skeletal 69 % 15300460 2011-10-11
Cerebellar atrophy nervous 45 % 15300460 2011-10-11
Tremor nervous 44 % 15300460 2011-10-11
Cardiomyopathy circulatory 31 % 15953402 2011-10-11
Retinitis pigmentosa nervous 27 % 15953402 2011-10-11
Retinitis pigmentosa nervous 13 % 15300460 2011-10-11
Cardiomyopathy circulatory 7 % 15300460 2011-10-11



List of references:


Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families.
C Mariotti, C Gellera, M Rimoldi, R Mineri, G Uziel, G Zorzi, D Pareyson, G Piccolo, D Gambi, S Piacentini, F Squitieri, R Capra, B Castellotti, S Di Donato,



Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - Jul 2004



Vitamin E deficiency ataxia with (744 del A) mutation on alpha-TTP gene: genetic and clinical peculiarities in Moroccan patients.
Naima Marzouki, Ali Benomar, Mohamed Yahyaoui, Nezha Birouk, Mohamed Elouazzani, Taib Chkili, Mohamed Benlemlih,



European journal of medical genetics - 2005