Expanding mutational and phenotypic spectrum of CST3-related leukoencephalopathy: a novel family and literature review.

Abstract excerpt

CST3-related leukoencephalopathy is a recently recognized adult-onset neurodegenerative disorder caused by pathogenic CST3 variants with C-terminal truncations, frameshifts, or deletions. Owing to the limited number of reported cases, its clinical and radiological spectrum remains incompletely defined. Here, we report a Chinese family harboring a novel heterozygous nonsense variant of CST3 (c.327C > A;...

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