A Novel ITM2B Mutation Associated with Familial Chinese Dementia

Article type: Short Communication

Authors: Liu, Xin^{a; 1} | Chen, Ke-Liang^{b; 1} | Wang, Yi^b | Huang, Yu-Yuan^b | Chen, Shi-Dong^b | Dong, Qiang^b | Cui, Mei^{b; *} | Yu, Jin-Tai^{b; *}

Affiliations: [a] Department of Neurology, Hunan Provincial People’s Hospital, The First Affiliated Hospital of Hunan Normal University, Changsha, China | [b] Department of Neurology and Institute of Neurology, Huashan Hospital, Fudan University, Shanghai, China

Correspondence: [*] Correspondence to: Jin-tai Yu, MD, PhD, or Mei Cui, MD, PhD, Department of Neurology and Institute of Neurology, Huashan Hospital, Shanghai Medical College, Fudan University, 12 Wulumuqi Zhong Road, Shanghai 200040, China. Tel.: +86 21 52888163; Fax: +86 21 62483421; E-mails: [email protected] (JTY); [email protected] (MC)

Note: [1] These authors contributed equally to this work.

Abstract: Mutations in ITM2B have been found to be associated with familial Danish dementia (FDD) and familial British dementia (FBD). Here, we describe a patient with dementia caused by a novel ITM2B p.*267Leuext*11 mutation. The patient presented with dementia, ataxia, deafness, and paraplegia. Amyloid PET and Tau PET showed abnormal deposition of amyloid and tau protein in brain. Summarized from previous 26 FBD and FDD cases, the clinical phenotype of ITM2B; p.*267Leuext*11 mutation in ITM2B is different from the features of FBD and FDD. Our findings increased genetic knowledge of familial dementia and extend the ethnic distribution of ITM2B mutations.

Keywords: Bri2, familial British dementia, familial Danish dementia, familial dementia, ITM2B

DOI: 10.3233/JAD-210176

Journal: Journal of Alzheimer's Disease, vol. 81, no. 2, pp. 499-505, 2021