Ataxia-telangiectasia

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We were unfortunately unable to download the information for this disease from OMIM.



Prevalence of clinical parameters (%)







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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
Ataxia nervous 100 % 1377828 2011-10-22
Dysarthria nervous 100 % 1377828 2011-10-22
Oculomotor apraxia nervous 100 % 1377828 2012-01-24
Cerebellar atrophy nervous 100 % 22017321 2012-01-24
Demyelination nervous 100 % 22017321 2012-01-24
Radiosensitivity integumentary 100 % 1256588 2015-09-20
Telangiectasia integumentary 97 % 1377828 2011-10-22
Chorea nervous 94 % 1377828 2012-01-24
Increased blood AFP circulatory 90 % 1377828 2012-01-24
Athetosis nervous 81 % 1377828 2012-01-24
Areflexia nervous 79 % 1377828 2011-10-22
Dystonia nervous 79 % 1377828 2012-01-24
Weight loss multi 77 % 1377828 2012-01-24
Neuropathy nervous 71 % 1377828 2012-01-24
Short stature nervous 65 % 1377828 2011-10-22
Immune deficiency lymphatic 61 % 1377828 2011-10-22
Nystagmus nervous 59 % 1377828 2011-10-22
Strabismus nervous 25 % 1377828 2011-10-22
Cancer lymphatic 7 % 1377828 2012-01-24



List of references:


Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals.
C G Woods, A M Taylor,

Seventy individuals with ataxia telangiectasia were studied: 29 females and 41 males with an age range of 2 to 42 years. The majority (43/68) presented by 3 years of age with truncal ataxia. All had progressive, handicapping neurological symptoms exhibiting ataxia (70/70), ocular motor apraxia (70/70), an impassive face (70/70), dysarthria (70/70), chorea (68/70), dystonia (55/70) and peripheral neuropathy (50/70). Clinical immune deficiency was present in 43 of 70 patients. Ocular telangiectasia were seen in all but one case and excessive thinness in 54 of 70. The mean age of loss of walking was 10 years and of writing 8 years. All 60 tested showed increased sensitivity to ionizing irradiation, 43 of 48 had an elevated alpha-fetoprotein level and 14 of 21 had an immunoglobulin deficiency. Although there was a marked variation in disease findings sibs were always similar. The heterogeneity seen seems at odds with the unilocus linkage of ataxia telangiectasia to 11q23.

The Quarterly journal of medicine - Feb 1992



Neuropathology in classical and variant ataxia-telangiectasia.
Mijke M M Verhagen, Jean-Jacques Martin, Marcel van Deuren, Chantal Ceuterick-de Groote, Corry M R Weemaes, Berry H P H Kremer, Malcolm A R Taylor, Michèl A A P Willemsen, Martin Lammens,

Ataxia-telangiectasia (A-T) is classically characterized by progressive neurodegeneration, oculocutaneous telangiectasia, immunodeficiency and elevated α-fetoprotein levels. Some patients, classified as variant A-T, exhibit a milder clinical course. In the latter patients extrapyramidal symptoms, instead of cerebellar ataxia, tend to be the dominating feature and other classical disease hallmarks, like telangiectasia, appear later or even may be absent. Some patients with variant disease have clinically pronounced anterior horn cell degeneration. Neuropathological studies of genetically proven A-T patients are lacking. The aims of our study were to describe the neuropathology of three A-T patients; in two of them the diagnosis was genetically confirmed. The neuropathological findings were compared with those of all known published autopsy findings in A-T patients up to now. Two classical A-T patients aged 19 and 22 and a 33-year-old patient with variant disease were autopsied. In line with previous reports, our patients had severe cerebellar atrophy, less pronounced degeneration of the dentate nucleus and inferior olive, degeneration of the posterior columns and neurogenic muscular atrophy. In addition, all three had anterior horn cell degeneration, which was most prominent at the lumbar level. Compared to the literature, the degenerative changes in the brain stem of the variant A-T patient were somewhat less than anticipated for his age. Degenerative changes in the cerebellum and spinal cord were comparable with those in the literature. Progeric changes were lacking. In conclusion, compared to classical A-T, the variant A-T patient showed essentially the same, only slightly milder neuropathological abnormalities, except for anterior horn degeneration.

Neuropathology : official journal of the Japanese Society of Neuropathology - Jun 2012



Defective excision repair of gamma-ray-damaged DNA in human (ataxia telangiectasia) fibroblasts.
M C Paterson, B P Smith, P H Lohman, A K Anderson, L Fishman,



Nature - Apr 1976