Adult onset familiar dystonia-plus syndrome: A novel presentation of IRF2BPL-associated neurodegeneration

Pathogenic variants of the IRF2BPL gene have been mostly associated with early onset epileptic encephalopathy. Movement disorders such as dystonia and ataxia were also reported, with symptoms mainly developing between childhood and adolescence. Here we describe a family with several members affected by a late onset dystonic and ataxic progressive syndrome, caused by a novel heterozygous pathogenic variant in the IRF2BPL gene.

Automated summary

Pathogenic variants of the IRF2BPL gene are mainly associated with early onset epileptic encephalopathy, but can also cause movement disorders such as dystonia and ataxia with symptoms developing primarily between childhood and adolescence.