The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Occurrence of Parkinson's syndrome in type 1 Gaucher disease
Abstract
Gaucher disease, the most prevalent glycolipid storage disorder, is classically subdivided into types according to the presence or absence of neurological involvement. Type I has hitherto been considered non-neuronopathic. We present six cases and a review of the literature of Parkinsonian symptoms in type I Gaucher disease patients. The hallmark of this atypical Parkinsonian syndrome is a relatively severe clinical course with early appearance of neurological signs in the 4th to 6th decade of life, aggressive progression of the signs and refractoriness to conventional anti-Parkinson therapy. We discuss the implications of these findings in the light of enzyme replacement therapy for Gaucher disease.
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The human glucocerebrosidase gene and pseudogene: Structure and evolution
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PREDICTION OF SEVERITY OF GAUCHER'S DISEASE BY IDENTIFICATION OF MUTATIONS AT DNA LEVEL
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Neurological involvement in type 1 (adult) Gaucher's disease.
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Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease
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Abnormal neutrophil chemotaxis in Gaucher disease
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Self-citationClinical diversity in Gaucher's disease.
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Cited by
Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease
Sidransky, E., Nalls, M. A., Aasly, J. O., Aharon-Peretz, J., Annesi, G., Barbosa, E. R., Bar-Shira, A., Berg, D., Bras, J., Brice, A., et al. (2009) · New England Journal of Medicine · doi:10.1056/nejmoa0901281 · Cited by 2,135
Self-citationMazzulli, J. R., Xu, Y.-H., Sun, Y., Knight, A. L., McLean, P. J., Caldwell, G. A., Sidransky, E., Grabowski, G. A., & Krainc, D. (2011) · Cell · doi:10.1016/j.cell.2011.06.001 · Cited by 1,341
Goedert, M., Spillantini, M. G., Del Tredici, K., & Braak, H. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2012.242 · Cited by 1,190
Bendor, J. T., Logan, T. P., & Edwards, R. H. (2013) · Neuron · doi:10.1016/j.neuron.2013.09.004 · Cited by 825
Parkinson’s disease: genetics and pathogenesis
Shulman, J. M., De Jager, P. L., & Feany, M. B. (2011) · Annual Review of Pathology: Mechanisms of Disease · doi:10.1146/annurev-pathol-011110-130242 · Cited by 801
Metadata
- Authors
- Neudorfer, O., Giladi, N., Elstein, D., Abrahamov, A., Turezkite, T., Aghai, E., Reches, A., Bembi, B., & Zimran, A.
- Venue
- QJM
- Publisher
- Oxford University Press (OUP)
- Published
- 1996-09-01
- Volume
- 89
- Issue
- 9
- Pages
- 691-694
- ISSN
- 0033-5622 (ISSN-L)
- 1460-2725
- 1460-2393
- OpenAlex
- W2071494035
- Cited by
- 401
- References
- 9
- FWCI
- 1.56
- Type
- journal article
- Language
- en
- Open access
- closed
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- Neudorfer, O., Giladi, N., Elstein, D., Abrahamov, A., Turezkite, T., Aghai, E., Reches, A., Bembi, B., & Zimran, A. (1996). Occurrence of Parkinson's syndrome in type 1 Gaucher disease. QJM. https://doi.org/10.1093/qjmed/89.9.691
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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