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Article

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p.

Brain : a journal of neurology - 1 Mar 2012

Hsiung Ging-Yuek R, DeJesus-Hernandez Mariely, Feldman Howard H, Sengdy Pheth, Bouchard-Kerr Phoenix, Dwosh Emily, Butler Rachel, Leung Bonnie, Fok Alice, Rutherford Nicola J, Baker Matt, Rademakers Rosa, Mackenzie Ian R A

Abstract excerpt

Frontotemporal dementia and amyotrophic lateral sclerosis are closely related clinical syndromes with overlapping molecular pathogenesis. Several families have been reported with members affected by frontotemporal dementia, amyotrophic lateral sclerosis or both, which show genetic linkage to a region on chromosome 9p21. Recently, two studies identified the FTD/ALS gene defect on chromosome 9p as an expanded...

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Identifiers

PMID: 22344582
DOI: 10.1093/brain/awr354
PMCID: PMC3286328

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