Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations

Neurology

Volumn 57, Issue 5, 2001, Pages 924-927

  Lucking C B ^a,c   Bonifati, V ^b   Periquet, M ^a   Vanacore, N ^b   Brice, A ^a   Meco, G ^b  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DOMINANT INHERITANCE; EXON; FAMILIAL DISEASE; GENE; GENE DELETION; GENE MUTATION; GENE PARKIN; HAPLOTYPE; HUMAN; ITALY; PARKINSONISM; PEDIGREE ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 0035845715     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.57.5.924     Document Type: Article

References (9)

1. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
2. 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
3. Deletions in the parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
4. Homozygous deletions in parkin gene in European and North African families with autosomal recessive juvenile parkinsonism
5. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe
6. Association between early-onset Parkinson's disease and mutations in the parkin gene
7. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
8. Levodopa-responsive dystonia: GTP cyclohydrolase I or parkin mutations?
9. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism