ArticleFrontiers in genetics2026
Case Report: Two siblings with a novel homozygous SLC18A2 variant causing parkinsonism-dystonia-2: a case series from Saudi Arabia.
Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Monoamine neurotransmitter disorders are rare, early-onset neurological conditions that frequently mimic cerebral palsy or epileptic encephalopathies, resulting in diagnostic delay. Parkinsonism-dystonia-2 (PKDYS2), caused by biallelic variants in Methods: This retrospective case report describes two siblings from a consanguineous family diagnosed with PKDYS2. Clinical, neuroimaging, and genetic data were collected from medical records, with longitudinal follow-up to assess disease progression and treatment response. Whole-exome sequencing (WES) was performed, and variants were analyzed using standard bioinformatics pipelines. A homozygous splice-site variant in Results: Both siblings presented in early infancy with hypotonia, developmental delay, dystonia, and oculogyric crises, with normal neuroimaging. WES identified a homozygous Conclusion: This case report identifies a previously unreported
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