Clinical and genetic studies on familial parkinsonism: The first report on a parkin gene mutation in a Taiwanese family

Movement Disorders

Volumn 16, Issue 1, 2001, Pages 164-166

  Lu, Ching Song ^a   Wu, J C ^a   Tsai, C H ^a   Chen, R S ^a   Wu Chou, Y H ^a   Hattori, N ^b   Yoshino, H ^b   Mizuno, Y ^b  

^a CHANG GUNG MEMORIAL HOSPITAL   (Taiwan)

^b JUNTENDO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA SYNUCLEIN; LEVODOPA; PARKIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; EXON; FAMILIAL DISEASE; FEMALE; GENE DELETION; GENE MUTATION; HOMOZYGOSITY; HUMAN; MALE; MEDICAL RESEARCH; ONSET AGE; PARKINSONISM; PEDIGREE ANALYSIS; PRIORITY JOURNAL; TAIWAN;

ADOLESCENT; ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 6; DOPAMINE; EXONS; FEMALE; GENE DELETION; HUMANS; LIGASES; MALE; MIDDLE AGED; PARKINSONIAN DISORDERS; PEDIGREE; POINT MUTATION; PROTEINS; SUBSTANTIA NIGRA; TAIWAN; UBIQUITIN-PROTEIN LIGASES;

EID: 0035241251     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8257(200101)16:1<164::AID-MDS1030>3.0.CO;2-X     Document Type: Article

References (17)

1. Yamamura Y, Sobue I, Ando K, Iido M, Yanagi T, Kono C. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 1973;23:239-244.
2. Ishikawa A, Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal recessive type juvenile parkinsonism. Neurology 1996;47:160-166.
3. Takahashi H, Ohama E, Suzuki S, et al. Familial juvenile parkinsonism: clinical and pathologic study in a family. Neurology 1994; 44:437-441.
4. Matsumine H, Saito M, Shimoda-Matsubayashi S, et al. Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet 1997;60:588-596.
5. Matsumine H, Yamamura Y, Kobayashi T, Nakamura S, Kuzuhara S, Mizuno Y. Early onset parkinsonism with diurnal fluctuation maps to a locus for juvenile parkinsonism. Neurology 1998; 50:1340-1345.
6. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998; 392:605-608.
7. Hattori 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.
8. Leroy E, Anastasopulos D, Konitsiotis S, Lavedan C, Polymeropoulos M. Deletions in the parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum Genet 1998;103:424-427.
9. Lucking CB, Abbas N, Dürr A, et al. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. Lancet 1998;352:1355-1356.
10. Nisipeanu P, Inzelberg R, Blumen SC, et al. Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: mutation of parkin gene. Neurology 1999;53:1602-1604.
11. Hattori N, Matsumine H, Asakawa S, et al. Point mutations (Thr 240 Arg and Ala 311 Stop) in parkin gene. Biochem Biophys Res Communic 1998;249:754-758.
12. Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive juvenile parkinsonism in Europe. Hum Mol Genet 1999;8:567-574.
13. Tsai CH, Lu CS. Early onset parkinsonism in Chinese. J Formosan Med Assoc 1991;90:964-969.
14. Globe LI, Di Iorio G, Bonavita V, Miller DC, Duvoisin RC. A large kindred with Autosomal dominant Parkinson's disease. Ann Neurol 1990;27:276-282.
15. Nygaard M, Marsden CD, Duvoisin RC. Dopa-responsive dystonia. Adv Neurol 1998;50:377-384.
16. Segawa M, Nomura Y. Hereditory progressive dystonia with marked diurnal fluctuation. Pathophysiological importance of the age of onset. Adv Neurol 1993;60:568-576.
17. Markopoulou K, Wszolek ZK, Pfeiffr RF. A Greek-American kindred with autosomal dominant, levodopa-responsive parkinsonism and anticipation. Ann Neurol 1995;38:373-378.