Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup).
Maria ArvioJaana LähdetieHannu KoivuAntti SohlbergEero PekkonenPublished in: Case reports in genetics (2023)
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.
Keyphrases
- intellectual disability
- case report
- deep brain stimulation
- autism spectrum disorder
- upper limb
- early onset
- copy number
- computed tomography
- genome wide
- parkinson disease
- genome wide identification
- sleep quality
- heart failure
- spinal cord injury
- high resolution
- multiple sclerosis
- magnetic resonance imaging
- physical activity
- single cell
- blood pressure
- heart rate
- positron emission tomography
- gene expression
- uric acid
- dna methylation
- magnetic resonance
- heart rate variability
- drug induced
- atrial fibrillation
- dual energy
- fluorescence imaging