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Case Reports
. 2022 Jan:94:22-24.
doi: 10.1016/j.parkreldis.2021.10.033. Epub 2021 Nov 14.

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

Francesca Antonelli  1 , Gaetano Grieco  2 , Francesco Cavallieri  3 , Antonella Casella  4 , Enza Maria Valente  4
Affiliations
Case Reports

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

Francesca Antonelli et al. Parkinsonism Relat Disord. 2022 Jan.

Abstract

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.

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