Expanding the ABCD1 mutation spectrum: a novel variant in X-linked adrenomyeloneuropathy
The first reported case of AMN associated with the novel ABCD1 c.1922G > T (p.Gly641Val) variant is described, expanding the mutational spectrum of X-ALD.
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The first reported case of AMN associated with the novel ABCD1 c.1922G > T (p.Gly641Val) variant is described, expanding the mutational spectrum of X-ALD.
A model using simple, routine parameters and PSA doubling time can identify those at minimal risk of reclassification, enabling a safe reduction in biopsy intensity, and advocates for a risk-adaptive AS protocol.
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