지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2011.1
- 수록면
- 99 - 101 (3page)
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초록· 키워드
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Background:Gaucher’s disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson’s disease (PD). We report herein a family of Koreans exhibiting parkinsonism-associated GBA mutations.
Case Report:A 44-year-old woman suffering from slowness and paresthesia of the left arm for the previous 1.5years, visited our hospital to manage known invasive ductal carcinoma. During a preoperative evaluation, she was diagnosed with Gaucher’s disease and double mutations of S271G and R359X in GBA. Parkinsonian features including low amplitude postural tremors, rigidity, bradykinesia and shuffling gait were observed. Genetic analysis also revealed that her older sister, who had also been diagnosed with PD and had been taking dopaminergic drugs for 8-years,also possessed a heterozygote R359X mutation in GBA.
18F-fluoropropylcarbomethoxyiodophenylnortropane positron-emission tomography in these patients revealed decreased uptake of dopamine transporter in the posterior portion of the bilateral putamen.
Conclusions:This case study demonstrates Korean familial cases of PD with heterozygote mutation of GBA, further supporting the association between PD and GBA mutation.
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참고문헌 (16)
참고문헌 신청
Alfonso P / 2007 / Spanish Gaucher’s Disease Registry. Mutation analysis and genotype/phenotype relationships of Gaucher disease patients in Spain / J Hum Genet 52 : 391 ~
Beutler E / 1994 / Two new Gaucher disease mutations / Hum Ge-net 93 : 209 ~ 210
Butters TD / 2007 / Gaucher disease / Curr Opin Chem Biol 11 : 412 ~ 418
Goker-Alpan O / 2008 / The spectrum of parkinsonian manifestations associated with gluco-cerebrosidase mutations / Arch Neurol 65 : 1353 ~ 1357
Gutti U / 2008 / The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease / Arch Neurol 65 : 850 ~ 851
Beutler E / 1994 / Two new Gaucher disease mutations / Hum Ge-net 93 : 209 ~ 210
Butters TD / 2007 / Gaucher disease / Curr Opin Chem Biol 11 : 412 ~ 418
Goker-Alpan O / 2008 / The spectrum of parkinsonian manifestations associated with gluco-cerebrosidase mutations / Arch Neurol 65 : 1353 ~ 1357
Gutti U / 2008 / The need for appropriate genotyping strategies for glucocerebrosidase mutations in cohorts with Parkinson disease / Arch Neurol 65 : 850 ~ 851
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