Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype

Mov Disord Clin Pract. 2026 Jan 12. doi: 10.1002/mdc3.70531. Online ahead of print.

Lisa Buikema^#^{1

2}, Matej Lokar^#^{1

3}, Saman Vinke², Borut Peterlin^{3

4}, Gaber Bergant⁴, Dejan Georgiev^{1

3

5}

¹ Department of Neurology, University Medical Centre Ljubljana, Ljubljana, Slovenia.
² Department of Neurosurgery, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, Nijmegen, Netherlands.
³ Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia.
⁴ Clinical Institute for Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.
⁵ Artificial Intelligence Laboratory, Faculty of Computer and Information Science, University of Ljubljana, Ljubljana, Slovenia.

^# Contributed equally.

No abstract available

Keywords: Haploinsufficiency; SPEN protein; chromosome 1p36 deletion syndrome; dystonia; human; intellectual disability.

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