title: Neuropathologic findings in an aged albino gorilla.
abstract: Pallido-nigral spheroids associated with iron deposition have been observed in some aged clinically normal nonhuman primates. In humans, similar findings are observed in neurodegeneration with brain iron accumulation diseases, which, in some cases, show associated mutations in pantothenate kinase 2 gene (PANK2). Here we present an aged gorilla, 40 years old, suffering during the last 2 years of life from progressive tetraparesis, nystagmus, and dyskinesia of the arms, hands, and neck, with accompanying abnormal behavior. The postmortem neuropathologic examination revealed, in addition to aging-associated changes in the brain, numerous corpora amylacea in some brain areas, especially the substantia nigra, and large numbers of axonal spheroids associated with iron accumulation in the internal globus pallidus. Sequencing of the gorilla PANK2 gene failed to detect any mutation. The clinical, neuropathologic, and genetic findings in this gorilla point to an age-related pallido-nigral degeneration that presented PKAN-like neurologic deficits.
authors.affiliation: Animal Tissue Bank of Catalunya, Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autonòma de Barcelona, Bellaterra (Cerdanyola del Vallès), Barcelona, Spain. mercedes.marquez@uab.cat
authors.forename: M
authors.initials: M
authors.lastname: Márquez
authors.forename: A
authors.initials: A
authors.lastname: Serafin
authors.forename: H
authors.initials: H
authors.lastname: Fernández-Bellon
authors.forename: S
authors.initials: S
authors.lastname: Serrat
authors.forename: A
authors.initials: A
authors.lastname: Ferrer-Admetlla
authors.forename: J
authors.initials: J
authors.lastname: Bertranpetit
authors.forename: I
authors.initials: I
authors.lastname: Ferrer
authors.forename: M
authors.initials: M
authors.lastname: Pumarola
mesh_terms: D000818:Animals; D000836:Animals, Zoo; D018420:Ape Diseases / Q000201:enzymology / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D017809:Fatal Outcome; D006071:Gorilla gorilla; D007150:Immunohistochemistry / Q000662:veterinary; D007501:Iron / Q000378:metabolism; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000662:veterinary; D009410:Nerve Degeneration / Q000201:enzymology / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics; D017422:Sequence Analysis, DNA; D018874:Spheroids, Cellular / Q000201:enzymology / Q000473:pathology / Q000648:ultrastructure
chemical_list: D004247:DNA; D007501:Iron; D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase