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ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small

Sho Kitahara1, Shoichiro Ando1, Masahiro Uemura1

  • 1Department of Neurology, Brain Research Institute, Niigata University, 1-757, Asahimachi-Dori, Chuoku, Niigata, 951-8585, Japan.

Scientific Reports
|January 23, 2026
PubMed

Insights

Pathogenic variants in the ABCC6 gene are linked to a distinct, hemorrhage-predominant cerebral small vessel disease (CSVD) phenotype in Japanese adults. This finding highlights ABCC6

Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • ABCC6 pathogenic variants are a significant cause of hereditary cerebral small vessel diseases (CSVD).
  • The specific CSVD phenotype associated with ABCC6 variants remains unclear.
  • Japanese adults are particularly affected by ABCC6-related CSVD.

Purpose of the Study:

  • To clarify the CSVD phenotype associated with ABCC6 pathogenic variants in Japanese adults.
  • To compare the clinical and MRI findings of ABCC6-related CSVD with other forms of CSVD, including CADASIL and genetically undetermined CSVD.

Main Methods:

  • A multicenter, cross-sectional study involving 158 Japanese adults with severe CSVD.
  • Genetic analysis to identify ABCC6 pathogenic variants.
  • Comparison of clinical and brain MRI findings across different CSVD groups.
  • Univariate and multivariate analyses to assess the association between ABCC6 variants and hemorrhagic stroke.

Main Results:

  • Nine patients (5.7%) carried pathogenic heterozygous ABCC6 variants.
  • Hemorrhagic stroke was significantly more frequent in ABCC6-related CSVD compared to CADASIL and undetermined CSVD (55.6% vs 13.6% and 10.3%, respectively).
  • Multivariate analysis confirmed an independent association between ABCC6 variants and hemorrhagic stroke (OR 8.4, P=0.004).
  • MRI revealed fewer anterior temporal lesions but more multiple microbleeds in ABCC6-related CSVD compared to CADASIL.

Conclusions:

  • ABCC6 pathogenic variants are associated with a distinct, hemorrhage-predominant CSVD phenotype in Japanese patients.
  • These findings support a contributory role of ABCC6 in the pathogenesis of CSVD.
  • Further validation in larger, multi-ethnic cohorts is warranted.

Keywords:
CADASILCerebral hemorrhageGeneticsLeukoaraiosisPseudoxanthoma elasticum

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