MAPT c.1999-1G > A Mutation presenting as Dysexecutive variant AD with CBS phenotype

Background: Cortico-basal syndrome- Alzheimer ’s disease (CBS-AD) phenotype can be differentiated clinically from Cortico-basal syndrome-Cortico-basal disease (CBS-CBD) type by longer duration of disease, dressing apraxia, memory loss, low mini-mental score at presentation, visuospatial difficulties and absence of limb rigidity. In patients w ith MAPT mutation, the most common clinical presentation is a classic frontotemporal dementia with parkinsonism linked to chromosome 17. Here we are describing a genetically proven MAPT gene mutation presenting in a relatively young onset as a dysexecutive variant AD with CBS phenotype.

Source: Parkinsonism and Related Disorders - May 1, 2024 Category: Neurology Authors: F. Mustafa, S. Sha, A. Das, D. Vibha, R. Kumar Singh, A. Elavarasi, J. Parihar, M. Tripathi Source Type: research