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Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients

Kiyoshiro Nagamatsu1,2, Yoshiki Sekijima1,3, Katsuya Nakamura1

  • 1Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto, Japan.

Journal of Human Genetics
|March 10, 2017
PubMed

Insights

Fabry disease is rare in the general stroke population, but screening found one elderly female patient. The GLA c.196G>C variant is a risk factor for stroke in Japanese males.

Area of Science:

  • Neurology
  • Genetics
  • Cardiology

Background:

  • Fabry disease is a known cause of cryptogenic stroke in younger individuals.
  • Its prevalence in the broader stroke population, particularly among the elderly, remains understudied.

Purpose of the Study:

  • To investigate the frequency of Fabry disease in a general Japanese stroke population.
  • To identify genetic risk factors associated with stroke subtypes in this cohort.

Main Methods:

  • Prospective study of 588 stroke patients (mean age 74.1 years).
  • Analysis of α-galactosidase A (α-GalA) activity and GLA gene sequencing from blood spots.
  • Comparison of allele frequencies with the general Japanese population.

Main Results:

  • One elderly female patient diagnosed with Fabry disease (GLA c.2T>C mutation).
  • GLA c.196G>C variant found in 5 males and 2 females; not associated with full Fabry disease.
  • GLA c.196G>C allele frequency was higher in male stroke patients with small-vessel occlusion and non-cardioembolism.

Conclusions:

  • Fabry disease is infrequent in the general Japanese stroke population, though present in elderly individuals.
  • The GLA c.196G>C variant is a genetic risk factor for specific stroke types (small-vessel occlusion, non-cardioembolism) in Japanese males, but not females.

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