Early Onset Dystonia, Parkinsonism, and Spasticity in Siblings with VAC14-Associated Neurodegeneration: A Case Report and Literature Review - PubMed
8 hours ago
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- Case report and literature review on siblings with VAC14-associated neurodegeneration presenting early onset dystonia, parkinsonism, and spasticity.
- VAC14 mutations linked to striatonigral degeneration and other neurodegenerative disorders.
- References include studies on the VAC14-interaction network, neuropathology of childhood-onset basal ganglia degeneration, and expanding spectrum of VAC14-related neurological diseases.
- VAC14 syndrome also associated with retinitis pigmentosa and neurodegeneration with brain iron accumulation in some cases.