{Reference Type}: Journal Article
{Title}: Clinical Manifestations.
{Author}: Todd EG;Bouzigues A;Foster PH;Ferry-Bolder E;Peakman G;Bocchetta M;Cash DM;Greaves CV;Convery RS;van Swieten JC;Jiskoot LC;Seelaar H;Moreno F;Sanchez-Valle R;Laforce R;Graff C;Masellis M;Tartaglia C;Rowe JB;Borroni B;Finger E;Synofzik M;Galimberti D;Vandenberghe R;Mendonca A;Butler C;Gerhard A;Ducharme S;Ber IL;Tiraboschi P;Santana I;Pasquier F;Levin J;Otto M;Sorbi S;Rohrer JD;Russell LL; ;
{Journal}: Alzheimers Dement
{Volume}: 19
{Issue}: 0
{Year}: 2023 Dec
{Factor}: 16.655
{DOI}: 10.1002/alz.076190
{Abstract}: <B>BACKGROUND: </B>Semantic and socioemotional knowledge, including person recognition, can be altered in frontotemporal dementia (FTD), and is often associated with the right temporal lobe variant. Using data from the Genetic FTD Initiative, we investigated person recognition deficits in genetic FTD.<BR><B>METHODS: </B>901 GENFI participants (279 mutation negative controls, 280 C9orf72 mutation carriers (MCs), 101 MAPTMCs and 241 GRN MCs) were grouped using the Clinical Dementia Rating scale plus National Alzheimer's Coordinating Centre Frontotemporal Lobar Degeneration (CDR plus NACC FTLD) global score where 0 denotes asymptomatic, 0.5 as prodromal, and 1+ as mild to severe symptoms (C9orf72: 135 = 0, 48 = 0.5, 97 = 1+; GRN: 143 = 0, 35 = 0.5, 63 = 1+; MAPT: 50 = 0, 20 = 0.5, 31 = 1+). Person recognition (PR) was assessed using a single question within a structured clinical questionnaire, scoring the ability to recognise people who should be familiar by face or voice to them, with a value between 0 (absent) to 3 (severe), similar to the CDR scale. The percentage of participants with PR deficits was calculated for each group. Logistic regression with bootstrapping compared the PR score between groups with age, gender, and education as covariates.<BR><B>RESULTS: </B>16.1% of C9orf72 MCs (0 = 0.7%, 0.5 = 2.1%, 1+ = 44.3%), 7.5% of GRN (0 = 0.0%, 0.5 = 8.6%, 1+ = 23.8%) and 17.8% of MAPT carriers (0 = 2%, 0.5 = 10%, 1+ = 48.4%) showed PR deficits. Mean (standard deviation) severity in each group was: C9orf72 0 = 0.0(0.0), 0.5 = 0.0(0.1), 1+ = 0.6(0.9); GRN 0 = 0.0(0.0), 0.5 = 0.0(0.1), 1+ = 0.2(0.6); MAPT 0 = 0.0(0.2), 0.5 = 0.1(0.3), 1+ = 0.6(0.8). Each of the symptomatic genetic groups had a significantly greater PR deficit than the control group (p<0.001), with the prodromal MAPT (p = 0.006) and GRN (p<0.001) groups also showing a greater impairment than controls. There was a trend to significance in the C9orf72asymptomatic and prodromal groups compared with controls (p = 0.058 and p = 0.059 respectively). Symptomatic C9orf72 and MAPT carriers showed greater impairment than the symptomatic GRN carriers (both p = 0.005).<BR><B>CONCLUSIONS: </B>Person recognition is a key early marker of disease in some individuals with genetic FTD and further imaging analyses will help to reveal the underlying mechanism of this deficit.