THE KNOWN UK CASES OF ATAXIA TELANGIECTASIA-LIKE DISORDER (ATLD)
| Autor: | Katy Westwood, Malcolm Taylor, John Ealing, Andrea H. Németh, Paul Worth |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities Mutation Pathology medicine.medical_specialty Ataxia Cerebellar ataxia Biology medicine.disease_cause medicine.disease Malignancy Psychiatry and Mental health Dysarthria Ataxia-telangiectasia medicine Cancer research Surgery Neurology (clinical) medicine.symptom Oculomotor apraxia Immunodeficiency |
| Zdroj: | Journal of Neurology, Neurosurgery & Psychiatry. 86:e4.184-e4 |
| ISSN: | 1468-330X 0022-3050 |
| DOI: | 10.1136/jnnp-2015-312379.9 |
| Popis: | Ataxia telangiectasia-like disorder (ATLD) is a very rare autosomal recessive disease with only 25 patients recognised worldwide. ATLD is likened to Ataxia telangiectasia (A-T) due to an overlap of clinical presentations and cellular characteristics. The clinical hallmark of A-T and ATLD is progressive young onset cerebellar ataxia. Variably present characteristics include dysarthria, oculomotor apraxia, ocular telangiectasia, immunodeficiency, spontaneous chromosome abnormalities and a predisposition to malignancy. In contrast to A-T, ocular telangiectasia is absent. Furthermore, ATLD patients tend to have a later onset and slower progression of neurological signs than A-T. The ATM gene, that has a key role in genome stability, is mutated in A-T resulting in an increase cancer predisposition. In ATLD, gene MRE11 is mutated leading to deficient activation of ATM. A functional consequence of the MRE11 mutation is raised chromosomal radiosensitivity because functional ATM kinase is required to rejoin chromosome breaks. This poster/presentation will describe the clinical features and genetic analysis of the ATLD cases with progressive ataxia known in the UK. Undergraduate Prize Winner 2015 |
| Databáze: | OpenAIRE |
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