Dentatorubral-pallidoluysian atrophy (DRPLA) with a small ganglioglioma component containing neurofibrillary tangles and polyglutamine aggregation

作者：Yamada Seiji^*; Yamazaki Tatsuya; Nakata Satoshi; Nobusawa Sumihito; Ikota Hayato; Ide Munenori; Mizushima Kazuyuki; Harigaya Yasuo; Hirato Junko; Yokoo Hideaki

来源：Neuropathology, 2017, 37(4): 335-340.

DOI：10.1111/neup.12365

• dentatorubral-pallidoluysian atrophy (DRPLA)
• ganglioglioma
• neurodegeneration
• neurofibrillary tangles
• polyglutamine disease

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 neuro-degenerative 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.

• 出版日期2017-8