Antonelli Francesca, Grieco Gaetano, Cavallieri Francesco, Casella Antonella, Valente Enza Maria
Neurological Clinic, Neurosciences Department, University of Modena and Reggio Emilia, Reggio Emilia, Italy.
Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy.
Parkinsonism Relat Disord. 2022 Jan;94:22-24. doi: 10.1016/j.parkreldis.2021.10.033. Epub 2021 Nov 14.
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.
IRF2BPL基因的致病性变异大多与早发性癫痫性脑病有关。也有报道称存在运动障碍，如肌张力障碍和共济失调，症状主要在儿童期至青春期之间出现。在此，我们描述了一个家族，其中有几名成员受迟发性肌张力障碍和共济失调进行性综合征影响，该综合征由IRF2BPL基因中的一种新的杂合致病性变异引起。
