Parkin disease: a clinicopathologic entity?

Journal article

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.
Obje... Expand abstract

Authors: Doherty, K; Silveira-Moriyama, L; Parkkinen, L; Healy, D; Farrell, M

• Publication status: Published
• Peer review status: Peer reviewed
• Publisher: American Medical Association
• Journal: JAMA neurology
• Volume: 70
• Issue: 5
• Pages: 571-579
• Publication date: 2013-03-04
• Acceptance date: 2013-01-21
• DOI: 10.1001/jamaneurol.2013.172
• EISSN: 2168-6157
• ISSN: 2168-6149
• Language: English
• Keywords: Tissue Banks; Male; Adult; Ubiquitin-Protein Ligases; Brain; Middle Aged; Parkinsonian Disorders; Age of Onset; Severity of Illness Index; Female; Humans