Lewy bodies and parkinsonism in families with parkin mutations

Annals of Neurology

Volumn 50, Issue 3, 2001, Pages 293-300

  Farrer, Matt ^a   Chan, Piu ^b   Chen, Rong ^b   Tan, Louis ^b   Lincoln, Sarah ^a   Hernandez, Dena ^a   Forno, Lysia ^c   Gwinn Hardy, Katrina ^a   Petrucelli, Leonard ^a   Hussey, Jennifer ^a   Singleton, Andrew ^a   Tanner, Caroline ^b   Hardy, John ^a   Langston, J William ^b  

^a MAYO CLINIC   (United States)

^b PARKINSON S INSTITUTE   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

RNA;

ADULT; AGED; ARTICLE; CHROMOSOME 6Q; CHROMOSOME DELETION; CLINICAL ARTICLE; FEMALE; GENE; GENE EXPRESSION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HUMAN; LEWY BODY; MALE; PARKIN GENE; PARKINSONISM; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ADULT; AGED; BRAIN; EXONS; FEMALE; HUMANS; LEWY BODIES; LIGASES; MALE; MIDDLE AGED; MUTATION; PARKINSON DISEASE; PARKINSONIAN DISORDERS; PEDIGREE; UBIQUITIN-PROTEIN LIGASES;

EID: 0034848395     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.1132     Document Type: Article

References (35)

1. Clinical and neuropathological aspects of autosomal recessive juvenile parkinsonism
2. Diagnostic criteria for Parkinson disease
3. Familial juvenile parkinsonism: Clinical and pathologic study in a family
4. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
5. Immunohistochemical and subcellular localization of parkin protein: Absence of protein in autosomal recessive juvenile parkinsonism patients
6. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
7. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
8. RING for destruction?
9. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe
10. Two cases of sporadic juvenile Parkinson's disease caused by homozygous deletion of parkin gene
11. Autosomal-recessive juvenile parkinsonism in a Jewish Yemenite kindred: Mutation of parkin gene
12. Association between early-onset Parkinson's disease and mutations in the parkin gene
13. Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism
14. Deletions in the parkin gene and genetic heterogeneity in a Greek family with early onset Parkinson's disease
15. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
16. Recent developments in Parkinson's disease
17. Clinical rating scale for tremor
18. Core assessment program for intracerebral transplantation
19. Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
20. PolyPhred: Automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing
21. Widespread alterations of alpha-synuclein in multiple system atrophy
22. 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
23. Point mutations (Thr240Arg and Gln311Stop) [correction of Thr240Arg and Ala311Stop] in the parkin gene
24. Association between early-onset Parkinson's disease and mutations in the parkin gene
25. Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent events, whereas point mutations may result from founder effects
26. Differential expression of the parkin gene in the human brain and peripheral leukocytes
27. Molecular cloning, gene expression, and identification of a splicing variant of the mouse parkin gene
28. Early-onset parkinsonism with diurnal fluctuation: Clinical and pathological studies
29. Immunohistochemical and subcellular localization of parkin protein: Absence of protein in autosomal recessive juvenile parkinsonism patients
30. An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene
31. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
32. Lewy bodies and aging: Relation to Alzheimer's and Parkinson's diseases
33. Polymorphism in the parkin gene in sporadic Parkinson's disease
34. Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease