A Case of 18p Chromosomal Deletion Encompassing GNAL in a Patient With Dystonia-Parkinsonism

Résumé fourni par la source

Deletions of the short arm of chromosome 18 encompassing the GNAL gene are associated with the 18p deletion syndrome, whose clinical features include facial dysmorphism, short stature, mental retardation, and movement disorders, especially dystonia 1 .Heterozygous loss-of-function variants of GNAL are known to cause adult-onset cranio-cervical dystonia and/or asymmetric dystonic tremor 2 .GNAL-related dystonia (DYT-GNAL) display an autosomal dominant (AD) inheritance pattern with incomplete penetrance and variable phenotypic expressivity.Only a limited number of cases of DYT-GNAL have been reported so far, therefore it is likely that its clinical spectrum has yet to be fully explored 2 .In this case report, we describe a patient with dystonia-parkinsonism and evidence of nigrostriatal denervation carrying a chromosome 18p deletion encompassing the whole GNAL gene.

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