The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Lewy bodies and parkinsonism in families with parkin mutations
Abstract
Previous work has established that compound mutations and homozygous loss of function of the parkin gene cause early‐onset, autosomal recessive parkinsonism. Classically, this disease has been associated with loss of dopaminergic neurons in the substantia nigra pars compacta and locus ceruleus, without Lewy body pathology. We have sequenced the parkin gene of 38 patients with early‐onset Parkinson's disease (<41 years). Two probands with mutations were followed up. Clinical evaluation of their families was performed, blinded to both genetic and pathological findings. Chromosome 6q25.2‐27 haplotype analysis was carried out independently of the trait; parkin gene expression was examined at both the RNA and protein levels. Haplotype analysis of these families revealed a common chromosome 6, with a novel 40 bp exon 3 deletion that cosegregated with disease. In the proband of the smaller kindred, an exon 7 R275W substitution was identified in addition to the exon 3 deletion; RNA analysis demonstrated that the mutations were on alternate transcripts. However, Lewy body pathology typical of idiopathic Parkinson's disease was found at autopsy in the proband from the smaller kindred. These data suggest that compound heterozygous parkin mutations and loss of parkin protein may lead to early‐onset parkinsonism with Lewy body pathology, while a hemizygous mutation may confer increased susceptibility to typical Parkinson's disease.
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Citations
Cites
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
Kitada, T., Asakawa, S., Hattori, N., Matsumine, H., Yamamura, Y., Minoshima, S., Yokochi, M., Mizuno, Y., & Shimizu, N. (1998) · Nature · doi:10.1038/33416 · Cited by 5,227
Diagnostic Criteria for Parkinson Disease
Gelb, D. J., Oliver, E., & Gilman, S. (1999) · Archives of Neurology · doi:10.1001/archneur.56.1.33 · Cited by 2,822
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
Shimura, H., Hattori, N., Kubo, S.-I., Mizuno, Y., Asakawa, S., Minoshima, S., Shimizu, N., Iwai, K., Chiba, T., Tanaka, K., et al. (2000) · Nature Genetics · doi:10.1038/77060 · Cited by 2,024 · cited 1×
“Parkin is a ubiquitin protein ligase.(7,8) The majority of families described in Japanese, African, and European populations have either homozygous deletions or compound point mutations and deletions, although several small kindreds with hemizygous mutations (affecting one allele of the gene) have also been reported.”
BackgroundRecent Developments in Parkinson's Disease
Hurtig, H. I. (1987) · Neurology · doi:10.1212/wnl.37.5.893 · Cited by 1,920
Association between Early-Onset Parkinson's Disease and Mutations in the Parkin Gene
Lücking, C. B., Dürr, A., Bonifati, V., Vaughan, J., De Michele, G., Gasser, T., Harhangi, B. S., Meco, G., Denèfle, P., Wood, N. W., et al. (2000) · New England Journal of Medicine · doi:10.1056/nejm200005253422103 · Cited by 1,433
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Core assessment program for intracerebral transplantations (CAPIT)
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Self-citationNickerson, D. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.14.2745 · Cited by 931
Parkinson's Disease and Movement Disorders
Kieburtz, K. (1994) · Archives of Neurology · doi:10.1001/archneur.1994.00540220013003 · Cited by 616
Abbas, N., Lucking, C. B., Ricard, S., Durr, A., Bonifati, V., De Michele, G., Bouley, S., Vaughan, J. R., Gasser, T., Marconi, R., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.4.567 · Cited by 530
Cited by
Alzheimer's Disease and Parkinson's Disease
Nussbaum, R. L., & Ellis, C. E. (2003) · New England Journal of Medicine · doi:10.1056/nejm2003ra020003 · Cited by 1,351
Toxic Proteins in Neurodegenerative Disease
Taylor, J. P., Hardy, J., & Fischbeck, K. H. (2002) · Science · doi:10.1126/science.1067122 · Cited by 1,251
Self-citationEpidemiology and etiology of Parkinson's disease: a review of the evidence
Wirdefeldt, K., Adami, H.-O., Cole, P., Trichopoulos, D., & Mandel, J. (2011) · European Journal of Epidemiology · doi:10.1007/s10654-011-9581-6 · Cited by 1,199
Mitochondrial Dysfunction and Oxidative Damage in parkin-deficient Mice
Palacino, J. J., Sagi, D., Goldberg, M. S., Krauss, S., Motz, C., Wacker, M., Klose, J., & Shen, J. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m401135200 · Cited by 995
Neuropathological assessment of Parkinson’s disease: refining the diagnostic criteria
Dickson, D. W., Braak, H., Duda, J. E., Duyckaerts, C., Gasser, T., Halliday, G. M., Hardy, J., Leverenz, J. B., Del Tredici, K., Wszolek, Z. K., et al. (2009) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70238-8 · Cited by 972
Self-citation
Metadata
- Authors
- Farrer, M., Chan, P., Chen, R., Tan, L., Lincoln, S., Hernandez, D., Forno, L., Gwinn‐Hardy, K., Petrucelli, L., Hussey, J., Singleton, A., Tanner, C., Hardy, J., & Langston, J. W.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 2001-08-03
- Volume
- 50
- Issue
- 3
- Pages
- 293-300
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2109040303
- Cited by
- 485
- References
- 28
- FWCI
- 28.53
- Type
- journal article
- Language
- en
- Open access
- closed
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- Farrer, M., Chan, P., Chen, R., Tan, L., Lincoln, S., Hernandez, D., Forno, L., Gwinn‐Hardy, K., Petrucelli, L., Hussey, J., Singleton, A., Tanner, C., Hardy, J., & Langston, J. W. (2001). Lewy bodies and parkinsonism in families with parkin mutations. Annals of Neurology. https://doi.org/10.1002/ana.1132
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