a loss-of-function effect. Both variants have therefore been reclassi fi ed as likely pathogenic. Thus, the two siblings had a VAC14 -related neurodegeneration manifested by early motor and language regression… Click to show full abstract
a loss-of-function effect. Both variants have therefore been reclassi fi ed as likely pathogenic. Thus, the two siblings had a VAC14 -related neurodegeneration manifested by early motor and language regression with progressive spastic tetraparesis, and absence of intellectual impairment. While the elder sister died at 20 y.o, the proband aged 37 is the oldest patient reported to date, with a
Keywords:
novel vac14;
vac14 variants;
variants identified;
striatonigral degeneration;
identified patient;
patient striatonigral
Journal Title: Movement Disorders Clinical Practice
Year Published: 2025
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Journal Title: Movement Disorders Clinical Practice
Year Published: 2025
Link to full text (if available)
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recommendations!