Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72 | Amyotrophic Lateral Sclerosis | JAMA Neurology | JAMA Network
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Original Contribution
Sep 2012

Characterization of a Family With c9FTD/ALS Associated With the GGGGCC Repeat Expansion in C9ORF72

Author Affiliations

Author Affiliations: Departments of Neurology (Drs Savica, Adeli, Knopman, Petersen, and Boeve), Diagnostic Radiology (Drs Vemuri, Whitwell, Jack, and Lowe), and Psychiatry and Psychology (Dr Fields), Rochester, Minnesota; and Department of Neuroscience, Jacksonville, Florida (Ms DeJesus-Hernandez and Dr Rademakers), Mayo Clinic.

Arch Neurol. 2012;69(9):1164-1169. doi:10.1001/archneurol.2012.772

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.