|Title:||Intrafamilial phenotypic heterogeneity in a Taiwanese family with a MAPT p.R5H mutation: a case report and literature review||Authors:||Lin, Hui-Chi
|Keywords:||Amyotrophic lateral sclerosis; Corticobasal syndrome; Depression; Frontotemporal dementia; Microtubule-associated protein tau; Primary progressive aphasia||Issue Date:||18-Sep-2017||Publisher:||BIOMED CENTRAL LTD||Journal Volume:||17||Journal Issue:||1||Source:||BMC neurology||Abstract:||
Frontotemporal degeneration (FTD) is a clinically and genetically heterogeneous neurodegenerative disorder characterized by deficits in executive function that frequently overlaps with parkinsonism and motor neuron disorders. Several genes have been identified to cause autosomal dominant forms of FTD, including the gene coding for the protein associated with microtubule tau (MAPT). While most reported pathogenic mutations in MAPT occur in exons 9-13, few families have been reported with mutations outside of this region. Herein, we report a first Taiwanese family having the exon 1 p.Arg5His mutation in MAPT with intrafamilial phenotype heterogeneity.
|Appears in Collections:||基因體暨蛋白體醫學研究所|
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