期刊
JOURNAL OF PEDIATRIC NEUROSCIENCES
卷 15, 期 3, 页码 283-285出版社
WOLTERS KLUWER MEDKNOW PUBLICATIONS
DOI: 10.4103/jpn.JPN_152_19
关键词
Ataxia-telangiectasia-like disorders; cerebellar ataxia; cerebellar atrophy
The prototypical disorder for the early-onset cerebellar ataxia with cerebellar atrophy is ataxia telangiectasia (AT). AT belongs to DNA-repair defects or DNA-repair deficiency disorders. The ATM (Ataxia-telangiectasia mutated kinase) gene mutated in AT is central to deoxyribonucleic acid (DNA) damage response (DDR) signaling. Other genes implicated in DDR signaling are MRE11A (Meiotic recombination 11). Mutation of this gene results in ataxia-telangiectasia-like disorder (ATLD). We report a boy who presented with mild cerebellar ataxia and dystonia with cerebellar atrophy on brain imaging. Clinical exome sequencing showed compound heterozygous variants in MRE11 gene. He was diagnosed as ATLD, which has not been reported in Indian subcontinent so far.
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