Ataxies cérébelleuses autosomiques recessives

Tranchant, C.; Anheim, Mathieu

doi:10.1016/j.lpm.2009.01.025

Cited by 4 publications

(2 citation statements)

References 68 publications

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“…It usually begins around the age of 5 years old [4], it is more apparent to the age of 10 years old [5], but the mean age of diagnosis is on average 3 years old [3]. Furthermore, the later forms are possible [4]. We report the case of an AT syndrome revealed at the age of 19 years old during a severe pneumonia with Klebsiella pneumoniae.…”

Section: Introductionmentioning

confidence: 93%

“…Diagnosis of AT is often made on a clinical triad that combines neurological signs dominated by a progressive cerebellar ataxia, oculocutaneous signs (telangiectasia, coffee stain milk), immunodeficiency (humoral and cellular) with sinopulmonary infections and elevated alphaphetoprotein [3]. It usually begins around the age of 5 years old [4], it is more apparent to the age of 10 years old [5], but the mean age of diagnosis is on average 3 years old [3]. Furthermore, the later forms are possible [4].…”

Section: Introductionmentioning

confidence: 99%

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Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Serhane¹,

Louhab²,

Sajiai³

et al. 2015

CRCM

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Ataxia Telangiectasia (AT) is a rare autosomal recessive multisystem disease. The diagnosis is often made on a clinical triad that combines neurological signs dominated by a progressive cerebellar ataxia, oculocutaneous signs (telangiectasia, coffee stain milk), immunodeficiency (humoral and cellular) with sinopulmonary infections and elevated alphaphetoprotein. The diagnosis of AT is usually early, however, some forms may be revealed late. We reported a case of a 19-year-old patient, admitted for severe pneumonia with Klebsiella Pneumonia. In its history, it was found a notion of recurrent respiratory infections and bronchiectasis. In its clinical examination, it had been discovered cerebellar ataxia and occulocutaneous telangiectasia. The determination of plasmatic alphafoetoprotein was elevated, and the search of immunodeficiency showed a mixed deficit (humoral and cellular) suggesting the diagnosis of AT.

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Section: Introductionmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Serhane¹,

Louhab²,

Sajiai³

et al. 2015

CRCM

View full text Add to dashboard Cite

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Statistical Analysis of ATM-Dependent Signaling in Quantitative Mass Spectrometry Phosphoproteomics

Waardenberg

2017

Methods in Molecular Biology

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Ataxia-telangiectasia mutated (ATM) is a serine/threonine protein kinase, which when perturbed is associated with modified protein signaling that ultimately leads to a range of neurological and DNA repair defects. Recent advances in phospho-proteomics coupled with high-resolution mass-spectrometry provide new opportunities to dissect signaling pathways that ATM utilize under a number of conditions. This chapter begins by providing a brief overview of ATM function, its various regulatory roles and then leads into a workflow focused on the use of the statistical programming language R, together with code, for the identification of ATM-dependent substrates in the cytoplasm. This chapter cannot cover statistical properties in depth nor the range of possible methods in great detail, but instead aims to equip researchers with a set of tools to perform analysis between two conditions through examples with R functions.

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Le patient cérébelleux

Morand¹

2010

Guide Pratique De Rééducation Neurologique

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Ataxies cérébelleuses autosomiques recessives

Cited by 4 publications

References 68 publications

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Ataxia Telangiectasia Syndrome Revealed by Severe Pneumonia

Statistical Analysis of ATM-Dependent Signaling in Quantitative Mass Spectrometry Phosphoproteomics

Le patient cérébelleux

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