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
- young adults
- neuropathic pain
- contrast enhanced
- neoadjuvant chemotherapy
- high intensity
- white matter
- resting state
- squamous cell carcinoma
- amino acid
- computed tomography
- binding protein
- magnetic resonance
- protein protein
- muscular dystrophy
- locally advanced
- blood brain barrier
- brain injury