TY - JOUR
T1 - Clinical and MRI correlates of disease progression in a case of nonfluent/agrammatic variant of primary progressive aphasia due to progranulin (GRN) Cys157LysfsX97 mutation
AU - Caso, Francesca
AU - Agosta, Federica
AU - Magnani, Giuseppe
AU - Galantucci, Sebastiano
AU - Spinelli, Edoardo G.
AU - Galimberti, Daniela
AU - Falini, Andrea
AU - Comi, Giancarlo
AU - Filippi, Massimo
PY - 2014/7/15
Y1 - 2014/7/15
N2 - Little is known about the longitudinal changes of brain damage in patients with sporadic nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) and in progranulin (GRN) mutation carriers. This study reports the clinical and MRI longitudinal data of a patient with nfvPPA carrying GRN Cys157LysfsX97 mutation (GRN +). Voxel-based morphometry, tensor-based morphometry and diffusion tensor MRI were applied to evaluate gray matter (GM) and white matter (WM) changes over three years. The prominent clinical feature was motor speech impairment associated with only mild agrammatism. MRI demonstrated a progressive and severe GM atrophy of inferior fronto-insular-temporo-parietal regions with focal damage to frontotemporal and frontoparietal WM connections. This is the first report of longitudinal MRI data in a nfvPPA- GRN + patient and this report offers new insights into the pathophysiology of the disease.
AB - Little is known about the longitudinal changes of brain damage in patients with sporadic nonfluent/agrammatic variant of primary progressive aphasia (nfvPPA) and in progranulin (GRN) mutation carriers. This study reports the clinical and MRI longitudinal data of a patient with nfvPPA carrying GRN Cys157LysfsX97 mutation (GRN +). Voxel-based morphometry, tensor-based morphometry and diffusion tensor MRI were applied to evaluate gray matter (GM) and white matter (WM) changes over three years. The prominent clinical feature was motor speech impairment associated with only mild agrammatism. MRI demonstrated a progressive and severe GM atrophy of inferior fronto-insular-temporo-parietal regions with focal damage to frontotemporal and frontoparietal WM connections. This is the first report of longitudinal MRI data in a nfvPPA- GRN + patient and this report offers new insights into the pathophysiology of the disease.
KW - Diffusion tensor MRI
KW - Nonfluent/agrammatic variant of primary progressive aphasia
KW - Progranulin
KW - Tensor-based morphometry
KW - Voxel-based morphometry
KW - White matter damage
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U2 - 10.1016/j.jns.2014.03.058
DO - 10.1016/j.jns.2014.03.058
M3 - Article
C2 - 24814951
AN - SCOPUS:84902076130
VL - 342
SP - 167
EP - 172
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 1-2
ER -