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Author

L. Schöls

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2 papers indexed here

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Review Open access Oct 2026

KCNA2-Associated Hereditary Spastic Paraplegia: Clinical Characteristics and Rationale for Targeted Treatment.

BACKGROUND A single recurrent variant, NM_004974.4(KCNA2):c.881G>A:p.(Arg294His), causes hereditary spastic paraplegia (HSP) through a unique variant-specific mechanism. Data from paralogous variants suggest that this may be a druggable mechanism. OBJECTIVE The objective of this work is to give an overview of the cli...

C. Boßelmann, M. Vyhnálek, Zuzana Blichová et al. · 0 citations
Sep 2026

Allogeneic haematopoietic stem cell transplantation in late-onset metachromatic leukodystrophy.

Comparing the long-term outcomes of the largest European cohort of HSCT-treated and untreated late-juvenile and adult MLD patients provides an evidence base for future comparison with innovative therapies and underscores the importance of early diagnosis and intervention.

D. Schoenmakers, M. Datema, Shanice Beerepoot et al. · 0 citations

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