Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

ABSTRACT:

Background

Although many recessive loci causing parkinsonism dystonia have been identified, these do not explain all cases of the disorder.

Methods

We used homozygosity mapping and mutational analysis in three individuals from two unrelated families who presented with adult-onset levodopa-responsive dystonia-parkinsonism, pyramidal signs and cognitive/psychiatric features, and cerebral and cerebellar atrophy on magnetic resonance imaging but absent iron in the basal ganglia.

Results

We identified areas of homozygosity on chromosome 22 and, subsequently, PLA2G6 mutations.

Interpretation

PLA2G6 mutations are associated with infantile neuroaxonal dystrophy and have been reported previously to cause early cerebellar signs, and the syndrome was classified as neurode

SUBMITTER: Paisan-Ruiz C 

PROVIDER: S-EPMC9016626 | biostudies-literature | 2009 Jan

REPOSITORIES: biostudies-literature