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Neurocase. 2015 Feb;21(1):85-9. doi: 10.1080/13554794.2013.873057. Epub 2014 Jan 14.

Slowly progressive frontotemporal lobar degeneration caused by the C9ORF72 repeat expansion: a 20-year follow-up study.

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1
a Institute of Clinical Medicine, Neurology , University of Oulu , Oulu , Finland.

Abstract

A hexanucleotide expansion in chromosome 9 open-reading frame 72 (C9ORF72) has been found to be a major cause of frontotemporal lobar degeneration (FTLD). We describe a 20-year follow-up of a unique case with very slowly progressive FTLD caused by the C9ORF72 repeat expansion. In serial neuropsychological examinations, the patient's cognitive decline was exceptionally slow and after 20 years the patient still was mainly independent in activities of daily living. Our case indicates that there is great individual variation in the progression and duration of C9ORF72-associated FTLD, and also language variants or mixed phenotypes may be present.

KEYWORDS:

cognition; frontotemporal dementia; genetics; neuropsychology; semantic dementia

PMID:
24417314
DOI:
10.1080/13554794.2013.873057
[Indexed for MEDLINE]
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