Movement disorders : official journal of the Movement Disorder Society · 2021
Neuropathological Findings in a Case of Parkinsonism and Developmental Delay Associated with a Monoallelic Variant in PLXNA1.
Клинический случайСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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O'Shea Sarah A, Hickman Richard A, Cortes Etty, Vonsattel Jean Paul, Fahn Stanley, Okur Volkan, Alcalay Roy N, Chung Wendy K
Аннотация
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 sequencing was performed with confirmation by Sanger sequencing. Brain autopsy was also performed.
RESULTS: Post-mortem exome sequencing on the proband identified a heterozygous predicted nonsense PLXNA1 variant (c.G3361T:p.Glu1121Ter). Pathology demonstrated arhinencephaly with brainstem heterotopia, diffuse Lewy body disease, and frontotemporal lobar dementia-tau.
CONCLUSIONS: This case of a patient with developmental delay and parkinsonism with PLXNA1 mutation highlights a need for assessing long-term outcomes of individuals with neurodevelopmental disorders, as well as the need for genetic testing in adults. It also suggests that the link between PLXNA1 and α-synuclein should be explored in the future. © 2021 International Parkinson and Movement Disorder Society.
OBJECTIVES: To describe the case of a 38-year-old patient with developmental delay who developed parkinsonism later in life.
METHODS: Post-mortem exome sequencing was performed with confirmation by Sanger sequencing. Brain autopsy was also performed.
RESULTS: Post-mortem exome sequencing on the proband identified a heterozygous predicted nonsense PLXNA1 variant (c.G3361T:p.Glu1121Ter). Pathology demonstrated arhinencephaly with brainstem heterotopia, diffuse Lewy body disease, and frontotemporal lobar dementia-tau.
CONCLUSIONS: This case of a patient with developmental delay and parkinsonism with PLXNA1 mutation highlights a need for assessing long-term outcomes of individuals with neurodevelopmental disorders, as well as the need for genetic testing in adults. It also suggests that the link between PLXNA1 and α-synuclein should be explored in the future. © 2021 International Parkinson and Movement Disorder Society.