Characterization of PLA2G6 as a locus for dystonia‐parkinsonism
Annals of neurology, 2009•Wiley Online Library
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 …
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 …
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 neurodegeneration with brain iron accumulation (type 2). Our cases have neither of these previously pathognomic features. Thus, mutations in PLA2G6 should additionally be considered in patients with adult‐onset dystonia‐parkinsonism even with absent iron on brain imaging. Ann Neurol 2008
Wiley Online Library