Autosomal recessive juvenile parkinsonism

Brain and Development - Tập 22 - Trang 115-117 - 2000
Masaaki Saito1, Mieko Maruyama2, Ken Ikeuchi2, Hiroshi Kondo3, Atsushi Ishikawa4, Tatsuhiko Yuasa5, Shoji Tsuji2
1Department of Neurology, National West Niigata Central Hospital, Niigata 950-2085, Japan
2Department of Neurology, Brain Research Institute, Niigata University, Niigata 951-8585, Japan
3Department of Neurology, Niigata National Hospital, Kashiwazaki 945-8585, Japan
4Department of Neurology, Nishi-Ojiya National Hospital, Ojiya 947-0041, Japan
5Department of Neurology, National Centre of Neurology and Psychiatry, Kohnodai Hospital, Ichikawa 272-8516, Japan

Tài liệu tham khảo

Polymeropoulos, 1997, Mutation in the alpha-synuclein gene identified in families with Parkinson's disease, Science, 276, 2045, 10.1126/science.276.5321.2045 Gasser, 1998, A susceptibility locus for Parkinson's disease maps to chromosome 2p13, Nature Genet, 18, 262, 10.1038/ng0398-262 Yokochi, 1984, Juvenile parkinsonism – some clinical, pharmacological, and neuropathological aspects, Adv Neurol, 40, 407 Yamamura, 1973, Paralysis agitans of early onset with marked diurnal fluctuation of symptoms, Neurology, 23, 239, 10.1212/WNL.23.3.239 Mizutani, 1993, Juvenile parkinsonism: neuropathological findings of nine cases, Gendaiiryou (Tokyo), 25, 11 Takubo, 1996, A 62-year-old man with familial parkinsonism with the onset at 24 years of the age (clinical conference), No to Shinkei – Brain Nerve (Tokyo), 48, 587 Matsumine, 1997, Localization of a gene for an autosomal recessive form of juvenile parkinsonism to chromosome 6q25.2-27, Am J Hum Genet, 60, 588 Saito, 1998, Refinement of the gene locus for autosomal recessive juvenile parkinsonism (AR-JP) on chromosome 6q25.2-27 and identification of markers exhibiting linkage disequilibrium, J Hum Genet, 43, 22, 10.1007/s100380050032 Jones, 1998, Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region, Am J Hum Genet, 63, 80, 10.1086/301937 Tassin, 1998, Am J Hum Genet, 63, 88, 10.1086/301934 Kitada, 1998, Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism, Nature, 392, 605, 10.1038/33416 Ishikawa, 1996, Clinical analysis of 17 patients in 12 Japanese families with autosomal-recessive type juvenile parkinsonism, Neurology, 47, 160, 10.1212/WNL.47.1.160 Takahashi, 1994, Familial juvenile parkinsonism: clinical and pathologic study in a family, Neurology, 44, 437, 10.1212/WNL.44.3_Part_1.437 Hattori, 1998, 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, 44, 935, 10.1002/ana.410440612 Lucking, 1998, Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism, Lancet, 352, 1355, 10.1016/S0140-6736(05)60746-5 Abbas, 1999, A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe, Hum Mol Genet, 8, 567, 10.1093/hmg/8.4.567 Maruyama, 2000, Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism, Ann Neurol, 10.1002/1531-8249(200008)48:2<245::AID-ANA15>3.0.CO;2-2 Hattori, 1998, Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the parkin gene, Biochem Biophys Res Commun, 249, 754, 10.1006/bbrc.1998.9134