Genotype and phenotype analyses of three families with autosomal recessive juvenile parkinsonism

Chinese Journal of Medical Genetics

Volumn 23, Issue 1, 2006, Pages 70-73

  Guo, Ji Feng ^a   Tang, Bei Sha ^a   Zhang, Yu Hu ^a   Liu, Hong Jian ^b   Yan, Xin Xiang ^a   Chen, Tao ^a   Shen, Lu ^a   Jiang, Hong ^a   Xia, Kun ^c   Cai, Fang ^c   Pan, Qian ^c  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b BINZHOU MEDICAL UNIVERSITY   (China)

^c CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Autosomal recessive juvenile parkinsonism; Gene mutation; Parkin gene

Indexed keywords

DNA; LEVODOPA; PARKIN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHINESE; CIRCADIAN RHYTHM; CLINICAL ARTICLE; CLINICAL FEATURE; DISEASE COURSE; DNA SEQUENCE; DRUG RESPONSE; EXON; FAMILY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE; HETEROZYGOSITY; HUMAN; HYPERREFLEXIA; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PARKINSONISM; PATIENT SATISFACTION; PHENOTYPE; POLYMERASE CHAIN REACTION; SLEEP; TREATMENT OUTCOME;

ADULT; FAMILY HEALTH; FEMALE; GENE DELETION; GENOTYPE; HUMANS; MALE; MUTATION; PARKINSONIAN DISORDERS; PHENOTYPE; UBIQUITIN-PROTEIN LIGASES;

EID: 32644437426     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

1. Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature, 1998, 392:605-608.
2. Lucking CB, Durr 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.
3. 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.
4. Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum Mol Genet, 1999, 8:567-5744.
5. Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in the early-onset parkinsonism. Hum Mol Genet, 2001, 10:1649-1656.
6. Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain, 2003, 126:1271-1278.
7. Illarioshkin SN, Periquet M, Rawal N, et al. Mutation analysis of the parkin gene in rassian families with autosomal recessive juvenile parkinsonism. Mov Disord, 2003, 18:914-919.
8. Maruyama M, Ikeuchi T, Saito M, et al. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism. Ann Neurol, 2000, 48:245-250.
9. Chung KK, Dawson VL, Dawson TM. The role of the ubiquitin-proteasomal pathyway in Parkinson's disease and other neurodegenerative diseases. Trends Neurosci, 2001, 24: S7-S14.