Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Heidy Baide-MairenaArthur CogetNicolas LeboucqVincent ProcaccioMaud BlanluetPierre MeyerMarie-Claire MalingeMarie-Céline François-HeudeMathis MorenoDavid GenevièveCecilia MarelliAgathe RoubertiePublished in: Annals of clinical and translational neurology (2023)
We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired microcephaly, failure to thrive. He progressively developed dystonia-parkinsonism with paroxysmal oromandibular and limbs dyskinesia and fatal outcome at 17 months. Cerebral MRI disclosed globus pallidus T2-WI hyperintensities and brain atrophy. Molecular analysis was performed post-mortem following the diagnosis of dentatorubral-pallidoluysian atrophy (DRPLA) in his symptomatic father. Polyglutamine expansion defects should be considered when neurodegenerative genetic disease is suspected even in infancy and parkinsonism can be a presentation of infantile-onset DRPLA.
Keyphrases
- deep brain stimulation
- parkinson disease
- drug induced
- zika virus
- magnetic resonance imaging
- atrial fibrillation
- cerebral ischemia
- subarachnoid hemorrhage
- contrast enhanced
- intellectual disability
- pulmonary embolism
- genome wide
- white matter
- resting state
- diffusion weighted imaging
- weight gain
- gene expression
- copy number
- early onset
- brain injury
- physical activity
- body mass index
- catheter ablation
- cerebral blood flow