Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

N. Tayebi; J. Walker; B. Stubblefield; E. Orvisky; M. E. LaMarca; K. Wong; H. Rosenbaum; R. Schiffmann; B. Bembi; E. Sidransky

doi:10.1016/S1096-7192(03)00071-4

Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

N. Tayebi, J. Walker, B. Stubblefield, E. Orvisky, M. E. LaMarca, K. Wong, H. Rosenbaum, R. Schiffmann, B. Bembi, E. Sidransky

Research output: Contribution to journal › Article › peer-review

216 Scopus citations

Abstract

Among the phenotypes associated with Gaucher disease, the deficiency of glucocerebrosidase, are rare patients with early onset, treatment-refractory parkinsonism. Sequencing of glucocerebrosidase in 17 such patients revealed 12 different genotypes. Fourteen patients had the common "non-neuronopathic" N370S mutation, including five N370S homozygotes. While brain glucosylsphingosine levels were not elevated, Lewy bodies were seen in the four brains available for study. The shared clinical and neuropathologic findings in this subgroup suggest that the deficiency in glucocerebrosidase may contribute to a vulnerability to parkinsonism.

Original language	English (US)
Pages (from-to)	104-109
Number of pages	6
Journal	Molecular Genetics and Metabolism
Volume	79
Issue number	2
DOIs	https://doi.org/10.1016/S1096-7192(03)00071-4
State	Published - Jun 1 2003
Externally published	Yes

Keywords

Gaucher disease
Genotype/phenotype correlation
Glucocerebrosidase
Lewy body
Metaxin
Modifier gene
Parkinsonism

ASJC Scopus subject areas

Endocrinology, Diabetes and Metabolism
Biochemistry
Molecular Biology
Genetics
Endocrinology

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Tayebi, N., Walker, J., Stubblefield, B., Orvisky, E., LaMarca, M. E., Wong, K., Rosenbaum, H., Schiffmann, R., Bembi, B., & Sidransky, E. (2003). Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Molecular Genetics and Metabolism, 79(2), 104-109. https://doi.org/10.1016/S1096-7192(03)00071-4

Gaucher disease with parkinsonian manifestations : Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? / Tayebi, N.; Walker, J.; Stubblefield, B.; Orvisky, E.; LaMarca, M. E.; Wong, K.; Rosenbaum, H.; Schiffmann, R.; Bembi, B.; Sidransky, E.

In: Molecular Genetics and Metabolism, Vol. 79, No. 2, 01.06.2003, p. 104-109.

Research output: Contribution to journal › Article › peer-review

Tayebi, N, Walker, J, Stubblefield, B, Orvisky, E, LaMarca, ME, Wong, K, Rosenbaum, H, Schiffmann, R, Bembi, B & Sidransky, E 2003, 'Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?', Molecular Genetics and Metabolism, vol. 79, no. 2, pp. 104-109. https://doi.org/10.1016/S1096-7192(03)00071-4

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