Affiliations: [a]
Department of Neurology, Jeonbuk National University Medical School and Hospital, Jeonju, Republic of Korea
| [b]
Department of Laboratory Medicine, Jeonbuk National University Medical School and Hospital, Jeonju, Republic of Korea
| [c]
Research Institute of Clinical Medicine of Jeonbuk National University - Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju, Republic of Korea
| [d]
Department of Laboratory Medicine, Hanyang University College of Medicine, Seoul, Republic of Korea
| [e]
Department of Neurology, Pusan National University Hospital, Busan, Republic of Korea
Correspondence:
[*]
Correspondence to: Ko Woon Kim, MD, PhD, Department of Neurology, Jeonbuk National University Hospital, 20 Geonji-ro, Deokjin-gu, Jeonju 54907, Korea. Tel.: +82 63 250 1590; Fax: +82 63 251 9363; E-mail: kowoonkim@jbnu.ac.kr and Yong Gon Cho, MD, PhD, Department of Laboratory medicine, Jeonbuk National University Hospital, 20 Geonji-ro, Deokjin-gu, Jeonju 54907, Korea. Tel.: +82 63 250 1218; Fax: +82 250 1200; E-mail: choyg@jbnu.ac.kr.
Abstract: Mutations in ITM2B have been reported to be associated with several familial dementias, such as Familial British dementia and familial Danish dementia. These are autosomal dominant disorders characterized by progressive dementia with an onset at around the fifth decade of life. We describe a family with cognitive impairment caused by a novel ITM2B p.*267Serext*11 mutation. The probands presented with cognitive impairment and cerebral infarction. MRI revealed diffuse white matter hyperintensity and microbleeds. Amyloid deposition was not observed on amyloid positron emission tomography. Our case suggests that the BRI2 mutation impacts cognition regardless of amyloid-β accumulation.
