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Article

Novel TARDBP sequence variant and C9ORF72 repeat expansion in a family with frontotemporal dementia.

Alzheimer disease and associated disorders - 1 Jan 2000

Kaivorinne Anna-Lotta, Moilanen Virpi, Kervinen Marko, Renton Alan E, Traynor Bryan J, Majamaa Kari, Remes Anne M

Abstract excerpt

Frontotemporal lobar degeneration (FTLD) is a genetically heterogenous syndrome and has been associated most recently with a hexanucleotide repeat expansion within the C9ORF72 gene. Pathogenic TDP-43 gene (TARDBP) mutations have been identified in amyotrophic lateral sclerosis, but the role of TARDBP mutations in FTLD is more contradictory. To investigate the role of TARDBP mutations in a clinical series of...

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Identifiers

PMID: 22892647
DOI: 10.1097/WAD.0b013e318266fae5
PMCID: PMC3511614

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TARDBP

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