title: Tau Accumulation in Primary Motor Cortex of Variant Alzheimer's Disease with Spastic Paraparesis.
abstract: We studied topographic distribution of tau and amyloid-β in a patient with variant Alzheimer's disease with spastic paraparesis (VarAD) by comparing AD patients. The proband developed progressive memory impairment, dysarthria, and spastic paraparesis at age 23. Heterozygous missense mutation (L166P) was found in exon 6 of presenilin-1 gene. The proband showed prominently increased amyloid binding in striatum and cerebellum and asymmetrical tau binding in the primary sensorimotor cortex contralateral to the side more affected by spasticity. We suspect that upper motor neuron dysfunctions may be attributed to excessive abnormal tau accumulation rather than amyloid-β in the primary motor cortex.
authors.affiliation: Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Chul Hyoung
authors.initials: CH
authors.lastname: Lyoo
authors.affiliation: Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Hanna
authors.initials: H
authors.lastname: Cho
authors.affiliation: Department of Nuclear Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Jae Yong
authors.initials: JY
authors.lastname: Choi
authors.affiliation: Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Mi Song
authors.initials: MS
authors.lastname: Hwang
authors.affiliation: Hallym Institute of Translational Genomics and Bioinformatics, Anyang, Gyeonggi-do, South Korea.
authors.forename: Sang Kyoon
authors.initials: SK
authors.lastname: Hong
authors.affiliation: Hallym Institute of Translational Genomics and Bioinformatics, Anyang, Gyeonggi-do, South Korea.|ILSONG Institute of Life Science, Department of Neurology, Hallym University Sacred Heart hospital, Anyang, Gyeonggi-do, South Korea.
authors.forename: Yun Joong
authors.initials: YJ
authors.lastname: Kim
authors.affiliation: Department of Nuclear Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Young Hoon
authors.initials: YH
authors.lastname: Ryu
authors.affiliation: Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea.
authors.forename: Myung Sik
authors.initials: MS
authors.lastname: Lee
mesh_terms: D000328:Adult; D000368:Aged; D000544:Alzheimer Disease / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D000814:Aniline Compounds; D001931:Brain Mapping; D002243:Carbolines; D005260:Female; D006801:Humans; D008297:Male; D009044:Motor Cortex / Q000000981:diagnostic imaging / Q000378:metabolism* / Q000473:pathology; D020125:Mutation, Missense; D020336:Paraparesis, Spastic / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology / Q000503:physiopathology*; D049268:Positron-Emission Tomography; D053764:Presenilin-1 / Q000235:genetics; D019275:Radiopharmaceuticals; D013267:Stilbenes; D016875:tau Proteins / Q000378:metabolism*
chemical_list: D000814:Aniline Compounds; D002243:Carbolines; C054369:MAPT protein, human; C508853:PSEN1 protein, human; D053764:Presenilin-1; D019275:Radiopharmaceuticals; D013267:Stilbenes; D016875:tau Proteins; C000591008:7-(6-fluoropyridin-3-yl)-5H-pyrido(4,3-b)indole; C527756:4-(N-methylamino)-4'-(2-(2-(2-fluoroethoxy)ethoxy)ethoxy)stilbene
keywords: Alzheimer’s disease; PET; amyloid; spastic paraplegia; tau protein