Characteristics of clinical presentation, neuroimaging and genetics in a patient with logopenic variant primary progressive aphasia

Objective To discuss the characteristics of clinical presentation, neuroimaging and genetics in a patient with logopenic variant primary progressive aphasia (lvPPA). Methods A case of lvPPA diagnosed with clinical presentation, neuropsychological tests, neuroimaging and genetic testing was reported, and the clinical characteristics of lvPPA were summarized. Results The initial symptom of lvPPA was progressive language impairment. A series of neuropsychological tests showed impaired spontaneous naming, repetition and intelligence with normal daily life ability and mental behavior. Neuroimaging examination showed multiple atrophy and hypo-perfusion in left frontal lobe, temporo-parietal lobe, lateral fissure and hippocampus. Moreover, high signal was revealed in left atrophic frontal subcortical white matter regions on FLAIR, which was normal on DWI and susceptibility weighted imaging. MR angiography showed slender left middle cerebral artery with sparse branches in distal, and 18F-fluorodeoxyglucose positron emission tomography showed hypometabolism in left frontal lobe, temporo-parietal lobe and hippocampus. Genetic testing revealed a pathogenic intron splicing mutation c. 708+ 1G>A reported before in progranulin (GRN) gene, and two novel extron hybrid mutations c. 241A>C and c. 242G>C in gelsolin gene. Conclusions lvPPA prominently manifested with impaired spontaneous naming and repetition in progressive language disorder, accompanied with slight intelligent impairment. Atrophy and hypoperfusion regions were mainly distributed in left frontal lobe, temporo-parietal lobe, lateral fissure and hippocampus, with involvement of subcortical white matter and slender left middle cerebral artery. Genetic testing for pathogenic mutation in GRN gene was helpful for diagnosis of lvPPA. Key words: Primary progressive aphasia; Neuropsychological tests; Clinical neuroimaging; Genetic testing