Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder

Hetzelt K, Kerling F, Kraus C, Rauch C, Thiel C, Winterholler M, Reis A, Zweier C (2021)

Publication Type: Journal article

Publication year: 2021

Journal

European Journal of Medical Genetics Elsevier

Book Volume: 64

Article Number: 104123

Journal Issue: 1

DOI: 10.1016/j.ejmg.2020.104123

Abstract

PPP2R5D-related neurodevelopmental disorder (NDD) is a rare autosomal-dominant disease with developmental delay and mild to severe intellectual disability. So far, fewer than 30 affected individuals with mostly recurrent, de novo missense variants in PPP2R5D were reported. Recently, parkinsonism with an onset between 20 and 40 years was reported in four adult individuals with the same p.(Glu200Lys) variant in PPP2R5D. By trio exome sequencing we now identified the variant p.(Glu198Lys) in a 29 year old woman presenting with typical clinical manifestations of PPP2R5D-related neurodevelopmental disorder and additionally with motor decline and levodopa responsive, early-onset parkinsonism from her mid-twenties on. Accordingly, a clear reduction of dopamine transporter in the striatum on both sides was revealed by brain scintigraphy. Our findings further expand the molecular and clinical spectrum of PPP2R5D-related NDD and confirm the association with parkinsonism in early adulthood. This has marked implications for prognosis of PPP2R5D-related NDDs and for the therapeutic management of motor decline and parkinson-like symptoms in affected individuals.

Authors with CRIS profile

Katalin Blum Institute of Human Genetics Christian Thiel Medizinische Fakultät André Wiesmann da Silva Reis Lehrstuhl für Humangenetik Christiane Zweier Lehrstuhl für Humangenetik

Involved external institutions

Krankenhaus Rummelsberg DE Germany (DE)

How to cite

APA:

Hetzelt, K., Kerling, F., Kraus, C., Rauch, C., Thiel, C., Winterholler, M.,... Zweier, C. (2021). Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder. European Journal of Medical Genetics, 64(1). https://doi.org/10.1016/j.ejmg.2020.104123

MLA:

Hetzelt, Katalin, et al. "Early-onset parkinsonism in PPP2R5D-related neurodevelopmental disorder." European Journal of Medical Genetics 64.1 (2021).

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