TY  - JOUR
T1  - CHaracterization of a family with c9ftd/als associated with the ggggcc repeat expansion in c9orf72
AU  - Savica R, Adeli A, Vemuri P, et al
Y1  - 2012/09/01
N1  - 10.1001/archneurol.2012.772
JO  - Archives of Neurology
SP  - 1164
EP  - 1169
VL  - 69
IS  - 9
N2  - 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.
SN  - 0003-9942
M3  - doi: 10.1001/archneurol.2012.772
UR  - http://dx.doi.org/10.1001/archneurol.2012.772
ER  -