Parkinsonism associated with glucocerebrosidase mutation

Mun Kyung Sunwoo, Seung Min Kim, Sarah Lee, Phil Hyu Lee

Research output: Contribution to journalReview article

10 Citations (Scopus)

Abstract

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. 18fluoropropylcarbomethoxyiodopheny-lnortropane 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.

Original languageEnglish
Pages (from-to)99-101
Number of pages3
JournalJournal of Clinical Neurology (Korea)
Volume7
Issue number2
DOIs
Publication statusPublished - 2011 Jun

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Glucosylceramidase
Parkinsonian Disorders
Mutation
Parkinson Disease
Genes
Gaucher Disease
Heterozygote
Neurologic Gait Disorders
Lysosomal Storage Diseases
Hypokinesia
Dopamine Agents
Ductal Carcinoma
Dopamine Plasma Membrane Transport Proteins
Paresthesia
Putamen
Tremor
Positron-Emission Tomography
Siblings

All Science Journal Classification (ASJC) codes

  • Neurology
  • Clinical Neurology

Cite this

Sunwoo, Mun Kyung ; Kim, Seung Min ; Lee, Sarah ; Lee, Phil Hyu. / Parkinsonism associated with glucocerebrosidase mutation. In: Journal of Clinical Neurology (Korea). 2011 ; Vol. 7, No. 2. pp. 99-101.
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Parkinsonism associated with glucocerebrosidase mutation. / Sunwoo, Mun Kyung; Kim, Seung Min; Lee, Sarah; Lee, Phil Hyu.

In: Journal of Clinical Neurology (Korea), Vol. 7, No. 2, 06.2011, p. 99-101.

Research output: Contribution to journalReview article

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AB - 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. 18fluoropropylcarbomethoxyiodopheny-lnortropane 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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