A new mutation in the parkin gene in a patient with atypical autosomal recessive juvenile parkinsonism

Neuroscience Letters

Volumn 289, Issue 1, 2000, Pages 66-68

  Muñoz, Esteban ^a   Pastor, Pau ^a   Martí, María J ^a   Oliva, Rafael ^b   Tolosa, Eduardo ^a  

^a Inst Clin M   (Spain)

^b HOSPITAL CLÍNIC   (Spain)

Author keywords

Autosomal recessive juvenile parkinsonism; Genetics; Mutations; Parkin gene; Parkinson's disease

Indexed keywords

BIPERIDEN; BROMOCRIPTINE; DOPAMINE RECEPTOR STIMULATING AGENT;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; GENE DELETION; GENE MUTATION; GENE SEQUENCE; HUMAN; ONSET AGE; PARKINSONISM; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; STOP CODON;

ADULT; ALTERNATIVE SPLICING; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENES, RECESSIVE; HUMANS; INTRONS; LIGASES; LOSS OF HETEROZYGOSITY; MUTATION; PARKINSON DISEASE; PEDIGREE; PROTEINS; UBIQUITIN-PROTEIN LIGASES;

EID: 0343517605     PISSN: 03043940     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0304-3940(00)01248-9     Document Type: Article

References (10)

1. Abbas N., Lucking C.B., Ricard S., Durr A., Bonifati V., De Michele G., Bouley S., Vaughan J.R., Gasser T., Marconi R., Broussolle E., Brefel-Courbon C., Harhangi B.S., Oostra B.A., Fabrizio E., Bohme G.A., Pradier L., Wood N.W., Filla A., Meco G., Denefle P., Agid Y., Brice A. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum. Mol. Genet. 8:1999;567-574.
2. Antonarakis S.E. Recommendations for a nomenclature system for human gene mutations. Hum. Mut. 11:1988;1-3.
3. Forno L.S. Neuropathology of Parkinson's disease. J. Neuropathol. Exp. Neurol. 55:1996;259-272.
4. Ishikawa A., Tsuji S. Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism. Neurology. 47:1996;160-166.
5. Kitada T., Asakawa S., Hattori N., Matsumine H., Yamamura Y., Minoshima S., Yokochi M., Mizuno Y., Shimizu N. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature. 392:1998;605-608.
6. Leroy E., Anastasopoulos D., Konitsiotis S., Lavedan C., Polymeropoulos M.H. Deletions in the parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease. Hum. Genet. 103:1998;424-427.
7. Lucking C.B., Abbas N., Durr A., Bonifati V., Bonnet A.M., de Broucker T., De Michele G., Wood N.W., Agid Y., Brice A. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism. Lancet. 352:1998;1355-1356.
8. Matsumine H., Saito M., Shimoda-Matsubayashi S., Tanaka H., Ishikawa A., Nakagawa-Hattori Y., Yokochi M., Kobayashi T., Igarashi S., Takano H., Sanpei K., Koike R., Mori H., Kondo T., Mizutani Y., Schaffer A.A., Yamamura Y., Nakamura S., Kuzuhara S., Tsuji S., Mizuno Y. Localization of a gene for an autosomal recessive form of juvenile parkinsonism of chromosome 6q25.2-27. Am. J. Hum. Genet. 60:1997;588-596.
9. Mori H., Kondo T., Yokochi M., Matsumine H., Nakagawa-Hattori Y., Miyake T., Suda K., Mizuno Y. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology. 51:1998;890-892.
10. Takahashi H., Ohama E., Suzuki S., Horikawa Y., Ishikawa A., Morita T., Tsuji S., Ikuta F. Familial juvenile parkinsonism: clinical and pathological study in a family. Neurology. 44:1994;437-441.