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Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene

2002; Wiley; Volume: 17; Issue: 2 Linguagem: Inglês

10.1002/mds.10071

1531-8257

Peter P. Pramstaller, Bernhard Kis, Cordula Eskelson, Katja Hedrich, Monika Scherer, E. Schwinger, Xandra O. Breakefield, Patricia L. Kramer, Laurie J. Ozelius, Christine Klein,

Cellular transport and secretion

Movement DisordersVolume 17, Issue 2 p. 424-426 Editor-Solicited Videotape Phenotypic variability in a large kindred (Family LA) with deletions in the parkin gene† Peter P. Pramstaller MD, Corresponding Author Peter P. Pramstaller MD [email protected] Department of Neurology, Regional General Hospital, Bolzano-Bozen, ItalyDepartment of Neurology, Regional General Hospital, Bolzano/Bozen, 5 Lorenz Boehler, I-39100, ItalySearch for more papers by this authorBernhard Kis MD, Bernhard Kis MD Department of Neurology, Regional General Hospital, Bolzano-Bozen, Italy Department of Neurology, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorCordula Eskelson BSc, Cordula Eskelson BSc Department of Neurology, Medical University of Lübeck, Lübeck, Germany Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorKatja Hedrich BSc, Katja Hedrich BSc Department of Neurology, Medical University of Lübeck, Lübeck, Germany Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorMonika Scherer MD, Monika Scherer MD Department of Neurology, Regional General Hospital, Bolzano-Bozen, ItalySearch for more papers by this authorEberhard Schwinger MD, Eberhard Schwinger MD Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorXandra O. Breakefield PhD, Xandra O. Breakefield PhD Molecular Neurogenetics Unit, Massachusetts General Hospital, and Departments of Neurology and Genetics and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this authorPatricia L. Kramer PhD, Patricia L. Kramer PhD Department of Neurology, Oregon Health Science University, Portland, Oregon, USASearch for more papers by this authorLaurie J. Ozelius PhD, Laurie J. Ozelius PhD Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USASearch for more papers by this authorChristine Klein MD, Christine Klein MD Department of Neurology, Medical University of Lübeck, Lübeck, Germany Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this author Peter P. Pramstaller MD, Corresponding Author Peter P. Pramstaller MD [email protected] Department of Neurology, Regional General Hospital, Bolzano-Bozen, ItalyDepartment of Neurology, Regional General Hospital, Bolzano/Bozen, 5 Lorenz Boehler, I-39100, ItalySearch for more papers by this authorBernhard Kis MD, Bernhard Kis MD Department of Neurology, Regional General Hospital, Bolzano-Bozen, Italy Department of Neurology, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorCordula Eskelson BSc, Cordula Eskelson BSc Department of Neurology, Medical University of Lübeck, Lübeck, Germany Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorKatja Hedrich BSc, Katja Hedrich BSc Department of Neurology, Medical University of Lübeck, Lübeck, Germany Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorMonika Scherer MD, Monika Scherer MD Department of Neurology, Regional General Hospital, Bolzano-Bozen, ItalySearch for more papers by this authorEberhard Schwinger MD, Eberhard Schwinger MD Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this authorXandra O. Breakefield PhD, Xandra O. Breakefield PhD Molecular Neurogenetics Unit, Massachusetts General Hospital, and Departments of Neurology and Genetics and Neuroscience Program, Harvard Medical School, Boston, Massachusetts, USASearch for more papers by this authorPatricia L. Kramer PhD, Patricia L. Kramer PhD Department of Neurology, Oregon Health Science University, Portland, Oregon, USASearch for more papers by this authorLaurie J. Ozelius PhD, Laurie J. Ozelius PhD Molecular Genetics, Albert Einstein College of Medicine, Bronx, New York, USASearch for more papers by this authorChristine Klein MD, Christine Klein MD Department of Neurology, Medical University of Lübeck, Lübeck, Germany Institute of Human Genetics, Medical University of Lübeck, Lübeck, GermanySearch for more papers by this author First published: 12 February 2002 https://doi.org/10.1002/mds.10071Citations: 16 † A videotape accompanies this article. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. REFERENCES 1Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392: 605– 608. 2Hattori N, Kitada T, Matsumine H, et al. Molecular genetic analysis of a novel parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the parkin gene in affected individuals. Ann Neurol 1998; 44: 935– 941. 3Lücking CB, Dürr A, Bonifati V, et al. Association between early-onset Parkinson's Disease and mutations in the parkin gene. N Engl J Med 2000; 342: 1560– 1567. 4Klein C, Pramstaller P, Kis B, et al. Parkin deletions in a family with adult-onset, tremor dominant parkinsonism: expanding the phenotype. Ann Neurol 2000; 48: 65– 71. 5Gibb WRG, Lees AJ. The relevance of the Lewy body to the pathogenesis of idiopathic Parkinson's disease. J Neurol Neurosurg Psychiatry 1988; 51: 745– 752. 6Hughes AJ, Daniel SE, Kilford L, Lees AJ. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992; 55: 181– 184. 7Hoehn MM, Yahr MD. Parkinsonism: onset, progression, and mortality. Neurology 1967; 17: 427– 442. 8Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial Parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001; 49: 367– 376. 9Shimura H, Hattori N. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000; 25: 302– 305. Citing Literature Volume17, Issue2March/April 2002Pages 424-426 ReferencesRelatedInformation