Neuropsychological profile associated with an alpha-synuclein gene ( < em > SNCA < /em > ) duplication

Conclusion: SNCA gene duplication has classically been associated with a slowly progressive syndrome closely resembling idiopathic PD, but less frequently it can cause rapidly progressive dementia. This case study is the first to describe this rare phenotype in terms of its full neuropsychological profile and trajectory. The case highlights the value of a transdisciplinary evaluation and treatment and brings up important ethical and practical issues that should be considered when working with patients who have suspected or known genetic disorders.PMID:33983072 | DOI:10.1080/13854046.2021.1914735

Source: The Clinical Neuropsychologist - May 13, 2021 Category: Psychiatry & Psychology Authors: Stephanie Kielb Yaz Y Kisanuki Erica Dawson Source Type: research