Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.
Mohammed A AlmuqbilSadia TabassumOsama Y MuthaffarFouad GhamdiZainab Al MasseriAbdulaziz AlsamanReem A AlkhaterPublished in: Annals of clinical and translational neurology (2024)
Parkinsonism-dystonia-2 PKDYS2 is an autosomal-recessive disorder, caused by pathogenic biallelic variants in SLC18A2 which encodes the vesicular monoamine transporter (VMAT2) protein. PKDYS2 is a treatable neurotransmitter disease, and the rate of diagnosis of this disorder has increased significantly with the advance of genomic technologies. Our report highlights a novel pathologic variant in one case and a novel finding on MRI Brain, consisting of a normal symmetrical signal intensity in the dorsal brainstem and pons, and it substantiates the significance of genetic testing in the evaluation of children with developmental delays, which influences clinical decisions to enhance patient outcomes.
Keyphrases
- saudi arabia
- deep brain stimulation
- parkinson disease
- early onset
- copy number
- intellectual disability
- drug induced
- magnetic resonance imaging
- spinal cord
- neoadjuvant chemotherapy
- white matter
- resting state
- contrast enhanced
- muscular dystrophy
- radiation therapy
- computed tomography
- locally advanced
- protein protein
- diffusion weighted imaging
- multiple sclerosis
- autism spectrum disorder
- functional connectivity
- amino acid
- dna methylation
- binding protein
- subarachnoid hemorrhage
- cerebral ischemia
- duchenne muscular dystrophy
- blood brain barrier