Pathological findings in a patient with alpha-synuclein p.A53T and familial Parkinson ' s disease

被引:7
作者
Nishioka, Kenya [1 ]
Hashizume, Yoshio [2 ]
Takanashi, Masashi [1 ]
Daida, Kensuke [1 ]
Li, Yuanzhe [1 ]
Yoshino, Hiroyo [3 ]
Tambasco, Nicola [4 ]
Prontera, Paolo [5 ]
Hattori, Yuko [6 ]
Ueda, Akihiro [7 ]
Watanabe, Hirohisa [7 ]
Hattori, Nobutaka [1 ]
机构
[1] Juntendo Univ, Sch Med, Dept Neurol, Bunkyo Ku, 2-1-1 Hongo, Tokyo 1138421, Japan
[2] Fukushimura Hosp, Choju Med Inst, 19-14 Noyoricho, Yamanaka, Aichi 4418124, Japan
[3] Juntendo Univ, Grad Sch Med, Res Inst Dis Old Age, Bunkyo Ku, 2-1-1 Hongo, Tokyo 1138421, Japan
[4] Univ Perugia, Santa Maria Misericordia Hosp, Neurol Dept, Movement Disorders Ctr, Perugia, Italy
[5] Univ Perugia, Santa Maria Misericordia Hosp, Med Genet Unit, Perugia, Italy
[6] Honmachi Neurol Clin, Naka Ku, 3-20-29 Sakae, Nagoya, Aichi 4600008, Japan
[7] Fujita Hlth Univ, Dept Neurol, 1-98 Dengakugakubo,Kutsukake Cho, Toyoake, Aichi 4701192, Japan
基金
日本学术振兴会;
关键词
Familial Parkinson's disease; Pathology; Alpha-synuclein; Genetics; BRAIN PATHOLOGY; A53T;
D O I
10.1016/j.parkreldis.2020.11.001
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
The present report documents a patient harboring an alpha-synuclein p.A53T variant from a family presenting with autosomal dominant inheritance, including four patients clinically diagnosed with Parkinson's disease (PD) and two with dementia. The alpha-synuclein p.A53T variant is linked to youngor middle-aged onset parkinsonism and cognitive decline. Our patient had a different haplotype from that of a patient with a p.A53T variant from an Italian family. The proband presented at 42 years of age with progressive parkinsonism and good response to levodopa in the early stages of the disease. At 46 years of age, he developed delusions and cognitive decline. Brain magnetic resonance imaging showed bilateral atrophic changes in the hippocampus and temporal lobes. He died of pneumonia at the age of 52 years. Neuropathological examination revealed severe neuronal loss in the substantia nigra, locus coeruleus, and dorsal nucleus of the vagus nerve, as well as widespread Lewy pathology including Lewy bodies and neurites, corresponding to Braak stage 6, and diffuse neocortical-type PD. There was mild appearance of tau pathology and glial cytoplasmic inclusion, in the absence of TDP-43 pathology. Alpha-synuclein p.A53T characteristically cause the Lewy body pathology and the symptoms, that resembled those of the reported patients with p.A53T.
引用
收藏
页码:183 / 187
页数:5
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