ND35201

Overview

Repository

NINDS Repository

Subcollection

Parkinsonism

Quantity

3 µg

Quantitation Method

Please see our FAQ

Biopsy Source

Peripheral vein

Sample Source

DNA from Whole Blood

Race

White

Ethnicity

Hispanic/Latino

Country of Origin

USA

Family Member

Family History

Species

Homo sapiens

Common Name

Human

Note

This material represents a finite resource (DNA from Whole Blood)

Characterizations

Gene

PARK2

Chromosomal Location

6q25.2-q27

Allelic Variant 1

602544.0005; PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE

Identified Mutation

EX3DEL; To determine the frequency of deletions in the PARK2 gene, Lucking et al. (1998) searched for homozygous deletions in the PARK2 gene in 12 PARK2-linked families with autosomal recessive juvenile parkinsonism (600116) and known or suspected consanguinity (a total of 32 patients). Five of the families originated from Italy, 4 from France, 1 from the Netherlands, 1 from Portugal, and 1 from Algeria. Six of the families had previously been reported by Tassin et al. (1998). They found 2 novel homozygous deletions in 8 patients from 3 families. The Algerian family carried a deletion of exons 8 and 9. Deletions of exon 3 were found in 1 French and 1 Portuguese family. Deletions in the PARK2 gene accounted, therefore, for only a quarter of the PARK2-linked families with known or suspected consanguinity, which suggested that point mutations may be more prominent. Mean age at onset and clinical severity were similar in the deleted and nondeleted families. The overall clinical features were also similar, except that patients with exon 3 deletions had significantly lower frequencies of tremor than the nondeleted patients, a significantly later mean age at onset than those with exon 8-9 deletions, and a trend toward greater severity for similar disease durations. Both deletions were expected to cause frameshifts introducing a premature stop codon and resulting in truncated proteins with probable loss of function. The exon 3 deletion might have more harmful effects, leading to a shorter truncated protein, since these patients were more severely affected. The exon 8-9 deletion was, however, associated with earlier age at onset, as if the less truncated protein resulted in an additional toxic effect.

External Links

NCBI GTR

168600 PARKINSON DISEASE, LATE-ONSET; PD

OMIM

168600 PARKINSON DISEASE, LATE-ONSET; PD

Omim Description

PARKINSON DISEASE 1

PARKINSON DISEASE; PD

PARKINSONISM

Culture Protocols

Supplement

Description:

PARKINSON DISEASE

Affected:

Yes

Sex:

Female

Age:

61 YR (At Sampling)

Overview

Characterizations

Phenotypic Data

External Links

Culture Protocols