University of Oulu

Arvio, M., Lähdetie, J., Koivu, H., Sohlberg, A., & Pekkonen, E. (2023). Manifestations of intellectual disability, dystonia, and parkinson’s disease in an adult patient with arx gene mutation c. 558_560dup p(Pro187dup). Case Reports in Genetics, Volume 2023, Article ID 3636748, 5 pages.

Manifestations of intellectual disability, dystonia, and Parkinson’s disease in an adult patient with ARX gene mutation c.558_560dup p.(Pro187dup)

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Author: Arvio, Maria1,2,3; Lähdetie, Jaana3; Koivu, Hannu1;
Organizations: 1Wellbeing Service County of Päijät-Häme, Lahti, Finland
2PEDEGO, Oulu University Hospital, Oulu, Finland
3Department of Child Neurology and General Practice, Turku University and Turku University Central Hospital, Turku, Finland
4Department of Neurology, Helsinki University Hospital and Department of Clinical Neurosciences (Neurology), University of Helsinki, Helsinki, Finland
Format: article
Version: published version
Access: open
Online Access: PDF Full Text (PDF, 0.7 MB)
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Language: English
Published: Hindawi, 2023
Publish Date: 2023-08-09


We describe a 38-year-old male patient with intellectual disability and progressive motor symptoms who lacked an etiological diagnosis for many years. Finally, clinical exome sequencing showed a likely pathogenic variant of the ARX gene suggesting Partington syndrome. His main symptoms were mild intellectual disability, severe kinetic apraxia, resting and action tremor, dysarthria, tonic pupils, constant dystonia of one upper limb, and focal dystonia in different parts of the body, axial rigidity, spasticity, epilepsy, and poor sleep. Another likely pathogenic gene variant was observed in the PKP2 gene and is in accordance with the observed early cardiomyopathy. Single-photon emission computed tomography imaging of dopamine transporters showed a reduced signal in the basal ganglia consistent with Parkinson’s disease. Therapies with a variable number of drugs, including antiparkinsonian medications, have yielded poor responses. Our case report extends the picture of the adult phenotype of Partington syndrome.

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Series: Case reports in genetics
ISSN: 2090-6544
ISSN-E: 2090-6552
ISSN-L: 2090-6544
Volume: 2023
Article number: 3636748
DOI: 10.1155/2023/3636748
Type of Publication: A1 Journal article – refereed
Field of Science: 3124 Neurology and psychiatry
Copyright information: © 2023 Maria Arvio et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.