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

Francesca Antonelli; Gaetano Grieco; Francesco Cavallieri; Antonella Casella; Enza Maria Valente

doi:10.1016/j.parkreldis.2021.10.033

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

Parkinsonism Relat Disord. 2022 Jan:94:22-24. doi: 10.1016/j.parkreldis.2021.10.033. Epub 2021 Nov 14.

Authors

Francesca Antonelli¹, Gaetano Grieco², Francesco Cavallieri³, Antonella Casella⁴, Enza Maria Valente⁴

Affiliations

¹ Neurological Clinic, Neurosciences Department, University of Modena and Reggio Emilia, Reggio Emilia, Italy. Electronic address: [email protected].
² Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
³ Neurology Unit, Neuromotor & Rehabilitation Department, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy; Clinical and Experimental Medicine PhD Program, University of Modena and Reggio Emilia, Italy.
⁴ Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy.

PMID: 34864472
DOI: 10.1016/j.parkreldis.2021.10.033

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.

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adult
Ataxia / complications
Carrier Proteins / genetics
Child
Dystonia* / complications
Dystonia* / genetics
Dystonic Disorders* / genetics
Heterozygote
Humans
Mutation
Nuclear Proteins / genetics
Syndrome

Substances

Carrier Proteins
IRF2BPL protein, human
Nuclear Proteins