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Title
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Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72
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Author
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Abstract
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| Background: The hexanucleotide repeat in the chromosome 9 open reading frame 72 (C9ORF72) gene was recently discovered as the underlying genetic cause of many families with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) linked to chromosome 9 (c9FTD/ALS). We report the clinical, neuropsychologic, and neuroimaging findings of a family with the C9ORF72 mutation and clinical diagnoses bridging the FTD, parkinsonism, and ALS spectrum. Objective: To characterize the antemortem characteristics of a family with c9FTD/ALS associated with the GGGGCC repeat expansion in C9ORF72. Design: Clinical series. Setting: Tertiary care academic medical center. Patients: The members of a family affected by the mutation with features of FTD and/or ALS. Main Outcome Measures: Clinical, neuropsychologic, and neuroimaging assessments. Results: All 3 examined subjects had the hexanucleotide expansion detected in C9ORF72. All had personality/behavioral changes early in the course of the disease. One case had levodopa-unresponsive parkinsonism, and 1 had ALS. Magnetic resonance imaging showed symmetric bilateral frontal, temporal, insular, and cingulate atrophy. Conclusions: This report highlights the clinical and neuroimaging characteristics of a family with c9FTD/ALS. Further studies are needed to better understand the phenotypical variability and the cliniconeuroimaging-neuropathologic correlations. Arch Neurol. 2012; 69(9): 1164-1169. Published online June 4, 2012. doi:10.1001/archneurol.2012.772 |
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Language
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English
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Source (journal)
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Archives of neurology / American Medical Association. - Chicago, Ill., 1960 - 2012
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Publication
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Chicago, Ill.
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2012
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ISSN
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0003-9942
[print]
1538-3687
[online]
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DOI
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10.1001/ARCHNEUROL.2012.772
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Volume/pages
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69
:9
(2012)
, p. 1164-1169
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ISI
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000308560600010
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Full text (Publisher's DOI)
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