Rare causes of dystonia-parkinsonism with cognitive impairment, behavioral abnormalities, and voiceless whispering stereotypies: Describing the long-term evolution of the neurological phenotype in a patient with the PSEN2 Ile149Thr variant

• Published in: Journal of the neurological sciences Vol. 454; p. 120846
• Main Authors: Romito, Luigi Michele, Prioni, Sara, Braccia, Arianna, Catania, Marcella, Elia, Antonio Emanuele, Dondi, Francesco, Lucchini, Silvia, Bertagna, Francesco, Piacentini, Sylvie H.M.J., Eleopra, Roberto, Di Fede, Giuseppe
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier B.V 15-11-2023
• Subjects: Alzheimer Disease - genetics; Cognitive Dysfunction - complications; Cognitive Dysfunction - genetics; Cognitive impairment; DAT SCAN; Dementia; Dysarthria; Dystonia; Dystonia - complications; Dystonia - genetics; Humans; Juvenile parkinsonism; Mutation; Parkinson; Parkinsonian Disorders - complications; Parkinsonian Disorders - genetics; Phenotype; Presenilin; Presenilin-1 - genetics; Presenilin-2 - genetics; PSEN1; PSEN2; PSEN2 Ile149Thr; Stereotypy; Voice; Whispering; PSEN2 Ile149Thr; DAT SCAN; PSEN2; Presenilin; PSEN1; Parkinson; Whispering; Dystonia; Stereotypy; Voice; Dysarthria; Juvenile parkinsonism; Dementia; Cognitive impairment
• ISSN: 0022-510X; 1878-5883
• DOI: 10.1016/j.jns.2023.120846

•PSEN2 variants are associated with various neurodegenerative disorders and phenotypes•Most variants cause Alzheimer's disease (AD) or Lewy body dementia (LB-D)•PSEN2 Ile149Thr variant can yield juvenile dystonia-parkinsonism with voiceless whispering stereotypies•At onset, PSEN2 Ile149Thr cognitive phenotype may resemble that of atypical AD-PCA, while in the advanced stage that of LB spectrum diseases•PSEN2 could act as a phenotypic modifier of complex neurodegenerative diseases