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High-risk screening for Gaucher disease in patients with neurological symptoms

Journal of Human Geneticsvolume 63pages717721 (2018) | Download Citation


Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase enzyme activity. Clinical phenotypes of GD are categorized into three groups: (i) non-neuronopathic GD (type 1), (ii) acute neuronopathic GD (type 2) and (iii) subacute neuronopathic GD (type 3). The high-risk screening of neuronopathic GD has been performed using an enzymatic assay on the dried blood spot (DBS) samples. We enrolled a total of 102 individuals (47 females, 55 males; 0–57 years old; median age 10.5 years) with various neurological symptoms. We detected two patients with very low enzyme activity and they were diagnosed with the disease by using glucocerebrosidase gene analysis. Patient 1 was found to be compound heterozygous for the p.R159W/p.R170C locus and patient 2 was found to harbor two mutations at the IVS7+1G>T (c.999+1G>T) and p.L483P sites. This simple screening protocol using DBS samples is useful for early diagnosis of GD in high-risk and underdiagnosed patients suffering from various neurological symptoms.

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We thank Fumiko Nozaki, Naomi Yano, and Matsumi Harada of Kumamoto University for their excellent technical support. This study was supported by a grant from the Ministry of Health, Labor and Welfare of Japan; a grant-in-aid for scientific research from the Ministry of Education, Culture, Sports, Science and Technology and a research grant from Shire Pharmaceuticals. The institutions that provided financial support had not played a role in the data collection or analysis.

Author information


  1. Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan

    • Ken Momosaki
    • , Jun Kido
    • , Shirou Matsumoto
    • , Shinichiro Yoshida
    • , Keishin Sugawara
    •  & Kimitoshi Nakamura
  2. The Chemo-Sero-Therapeutic Research Institute (KAKETSUKEN), Kumamoto, Japan

    • Shinichiro Yoshida
    •  & Keishin Sugawara
  3. Pediatrics and Neonatology, Takatsuki General Hospital, Takatsuki, Japan

    • Atsuko Takei
  4. Department of Pediatric Neurology, Miyagi Children’s Hospital, Sendai, Japan

    • Takuya Miyabayashi
  5. Kumamoto-Ezuko Medical Center for Disabled Children, Kumamoto, Japan

    • Fumio Endo


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The authors declare that they have no conflict of interest.

Corresponding author

Correspondence to Kimitoshi Nakamura.

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