title: Dentatorubral-pallidoluysian atrophy (DRPLA) with a small ganglioglioma component containing neurofibrillary tangles and polyglutamine aggregation.
abstract: Dentatorubral-pallidoluysian atrophy (DRPLA), one of the polyglutamine diseases, has not been reported in combination with ganglioglioma (GG). Herein, we report an autopsy case of a 72-year-old man with DRPLA with a small GG component harboring neurofibrillary tangles (NFTs) and polyglutamine aggregates. NFTs, cytoplasmic accumulations of hyper-phosphorylated tau, are mainly observed in Alzheimer's disease (AD) and other tau-associated neurodegenerative disorders. NFTs can also be present in normal aging, and are occasionally observed in low-grade central nervous system (CNS) neoplasms such as GG. In the present case, whole brain examination demonstrated widespread deposition of polyglutamine aggregates, including GG, whereas NFTs were restricted to the GG component. In addition, no other AD or aging-related neuropathological structures were detected throughout the CNS. These findings may provide us with clues to elucidate the pathogenetic mechanisms that neuronal neoplasms may have to develop NFTs regardless of aging, and that polyglutamine may accumulate in neoplastic neurons in polyglutamine disease.
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Seiji
authors.initials: S
authors.lastname: Yamada
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Yamazaki
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Satoshi
authors.initials: S
authors.lastname: Nakata
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Sumihito
authors.initials: S
authors.lastname: Nobusawa
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Hayato
authors.initials: H
authors.lastname: Ikota
authors.affiliation: Department of Pathology, Maebashi Red Cross Hospital, Maebashi, Gunma, Japan.
authors.forename: Munenori
authors.initials: M
authors.lastname: Ide
authors.affiliation: Department of Neurology, Maebashi Red Cross Hospital, Maebashi, Gunma, Japan.
authors.forename: Kazuyuki
authors.initials: K
authors.lastname: Mizushima
authors.affiliation: Department of Neurology, Maebashi Red Cross Hospital, Maebashi, Gunma, Japan.
authors.forename: Yasuo
authors.initials: Y
authors.lastname: Harigaya
authors.affiliation: Department of Pathology, Gunma University Hospital, Maebashi, Gunma, Japan.
authors.forename: Junko
authors.initials: J
authors.lastname: Hirato
authors.affiliation: Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Japan.
authors.forename: Hideaki
authors.initials: H
authors.lastname: Yokoo
mesh_terms: D000368:Aged; D001932:Brain Neoplasms / Q000150:complications / Q000473:pathology*; D018303:Ganglioglioma / Q000150:complications / Q000473:pathology*; D006801:Humans; D008297:Male; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications / Q000473:pathology*; D016874:Neurofibrillary Tangles / Q000473:pathology*; D010455:Peptides
chemical_list: D010455:Peptides; C097188:polyglutamine
keywords: dentatorubral-pallidoluysian atrophy (DRPLA); ganglioglioma; neurodegeneration; neurofibrillary tangles; polyglutamine disease