Article
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
Movement disorders : official journal of the Movement Disorder Society - 1 Nov 2021
O'Shea Sarah A, Hickman Richard A, Cortes Etty, Vonsattel Jean Paul, Fahn Stanley, Okur Volkan, Alcalay Roy N, Chung Wendy K
Abstract excerpt
BACKGROUND: PLXNA1 encodes for Plexin-A, a transmembrane protein expressed in the developing nervous system. Mutations in this gene have been associated with developmental delay but have not been previously associated with the development of parkinsonism. OBJECTIVES: To describe the case of a 38-year-old patient with developmental delay who developed parkinsonism later in life. METHODS: Post-mortem exome...
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