Parkin disease: a clinicopathologic entity?

ABSTRACT:

Importance

Mutations in the gene encoding parkin (PARK2) are the most common cause of autosomal recessive juvenile-onset and young-onset parkinsonism. The few available detailed neuropathologic reports suggest that homozygous and compound heterozygous parkin mutations are characterized by severe substantia nigra pars compacta neuronal loss.

Objective

To investigate whether parkin-linked parkinsonism is a different clinicopathologic entity to Parkinson disease (PD).

Design, setting, and participants

We describe the clinical, genetic, and neuropathologic findings of 5 unrelated cases of parkin disease and compare them with 5 pathologically confirmed PD cases and 4 control subjects. The PD control cases and normal control subjects were matched first for age at death then

SUBMITTER: Doherty KM 

PROVIDER: S-EPMC4202385 | biostudies-literature | 2013 May

REPOSITORIES: biostudies-literature