Affiliations: [a] Department of Neurology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea | [b] Department of Nuclear Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, South Korea | [c] Hallym Institute of Translational Genomics and Bioinformatics, Anyang, Gyeonggi-do, South Korea | [d] ILSONG Institute of Life Science, Department of Neurology, Hallym University Sacred Heart hospital, Anyang, Gyeonggi-do, South Korea
Correspondence:
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Correspondence to: Myung Sik Lee, MD, PhD, Professor, Department of Neurology, Gangnam Severance Hospital,
Yonsei University College of Medicine, 211 Eonjuro, Gangnam-gu, Seoul, South Korea. Tel.: +82 2 2019 3322;
Fax: +82 2 3462 5904; E-mail: mslee@yuhs.ac.
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.
Keywords: Alzheimer’s disease, amyloid, PET, spastic paraplegia, tau protein
