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Animal Tissue Bank of Catalunya (MM, AS, MP), Departament de Medicina i Cirurgia Animals, Facultat de Veterinària, Universitat Autonòma de Barcelona, Bellaterra (Cerdanyola del Vallès), Barcelona, Spain, Parc Zoològic de Barcelona (HF-B, SS), Barcelona, Spain, Unitat de Biologia Evolutiva (AF-A, JB), Universitat Pompeu Fabra, Barcelona, Spain, Institut Neuropatología (IF); and Servei Anatomia Patològica, IDIBELL-Hospital Universitari de Bellvitge, carrer Feixa Llarga s/n, Hospitalet de Llobregat, Spain
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.
Key words: Axonal dystrophy; gorilla; iron; neurodegeneration with brain iron accumulation; nonhuman primate; pantothenate kinase–associated neurodegeneration; pallido-nigral degeneration.
Request reprints from Dr. Merce Márquez, Department of Animal Medicine and Surgery, Veterinary Faculty, UAB, 08193, Bellaterra, Barcelona (Spain). E-mail: mercedes.marquez{at}uab.cat
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