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A Novel ITM2B Mutation Associated with Familial Chinese Dementia

30 Mar 2021

Abstract excerpt

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...

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PMID: 33814452
DOI: 10.3233/jad-210176

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