Dopa Responsive Parkinsonism in an Early Onset Alzheimer’s Disease Patient with a Presenilin 1 Mutation (A434T)

Article type: Short Communication

Authors: Jo, Hyunjin^{a; b; c} | Kim, Minkyeong^{a; b} | Park, Seongbeom^{a; b} | Park, Jong Eun^{d; e} | Cho, Soo Hyun^{a; b; c; f} | Kim, Seung Joo^{a; b; c; g} | Jang, Hyemin^{a; b; c} | Jung, Yong Hee^{a; b; c} | Kim, Junpyo^{a; b; c} | Na, Duk L.^{a; b; c; h} | Seo, Sang Won^{a; b; c; i} | Cho, Jin Whan^{a; b; *} | Kim, Hee Jin^{a; b; c; *}

Affiliations: [a] Department of Neurology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea | [b] Neuroscience Center, Samsung Medical Center, Seoul, Korea | [c] Samsung Alzheimer Research Center, Samsung Medical Center, Seoul, Korea | [d] Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea | [e] Department of Laboratory Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea | [f] Department of Neurology, Chonnam National University Hospital, Chonnam National University Medical School, Gwangju, Korea | [g] Department of Neurology, Gyeongsang National University School of Medicine and Gyeongsang National University Changwon Hospital, Changwon, South Korea | [h] Department of Health Sciences and Technology, SAIHST, Sungkyunkwan University, Seoul, Korea | [i] Department of Clinical Research Design and Evaluation, SAIHST, Sungkyunkwan University, Seoul, Korea

Correspondence: [*] Correspondence to: Hee Jin Kim, MD, PhD, Department of Neurology, Sungkyunkwan University School of Medicine, Samsung Medical, Center, 50 Ilwon-dong, Gangnam-ku, Seoul 135-710, Republic of Korea. Tel.: +82 2 2148 9794; Fax: +82 2 3410 0052; E-mail: [email protected]. and Jin Whan Cho, Department of Neurology, Sungkyunkwan University School of Medicine, Samsung Medical Center, 50 Ilwon-dong, Gangnam-ku, Seoul 135-710, Republic of Korea. Tel.: +82 2 3410 1279; Fax: +82 2 3410 0052; E-mail: [email protected].

Abstract: Alzheimer’s disease patients with presenilin 1 (PSEN1) mutations commonly show parkinsonism in addition to dementia. Yet, whether these patients show dopaminergic deficit and response to L-dopa is largely unknown. We report a 43-year-old woman with a PSEN1 mutation (A434T) who showed right side dominant parkinsonism. As disease progressed, she developed bilateral parkinsonism which was markedly relieved by L-dopa. Amyloid (Florbetaben) positron-emission tomography (PET) showed cortical florbetaben uptake, relatively sparing the striatum. Initial dopamine transporter (FP-CIT) PET showed asymmetrically decreased FP-CIT uptake in the left striatum. We suggest that in Alzheimer’s disease patients with PSEN1 mutation, parkinsonism may be relieved by L-dopa when it is associated with presynaptic dopaminergic deficit.

Keywords: Alzheimer’s disease, FP-CIT PET, L-dopa, parkinsonism, presenilin 1

DOI: 10.3233/JAD-190469

Journal: Journal of Alzheimer's Disease, vol. 71, no. 1, pp. 7-13, 2019