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Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?

Andelman-Gur, MM; Leventer, RJ; Hujirat, M; Ganos, C; Yosovich, K; Carmi, N; Lev, D; ... Blumkin, L; + view all (2020) Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome? American Journal of Medical Genetics Part A , 182 (10) pp. 2207-2213. 10.1002/ajmg.a.61795. Green open access

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Abstract

The clinical presentation of bilateral perisylvian polymicrogyria (PMG) is highly variable, including oromotor dysfunction, epilepsy, intellectual disability, and pyramidal signs. Extrapyramidal features are extremely rare. We present four apparently unrelated patients with a unique association of PMG with dystonia. The clinical, genetic, and radiologic features are described and possible mechanisms of dystonia are discussed. All patients were female and two were born to consanguineous families. All presented with early childhood onset dystonia. Other neurologic symptoms and signs classically seen in bilateral perisylvian PMG were observed, including oromotor dysfunction and speech abnormalities ranging from dysarthria to anarthria (4/4), pyramidal signs (3/4), hypotonia (3/4), postnatal microcephaly (1/4), and seizures (1/4). Neuroimaging showed a unique pattern of bilateral PMG with an infolded cortex originating primarily from the perisylvian region in three out of four patients. Whole exome sequencing was performed in two out of four patients and did not reveal pathogenic variants in known genes for cortical malformations or movement disorders. The dystonia seen in our patients is not described in bilateral PMG and suggests an underlying mechanism of impaired connectivity within the motor network or compromised cortical inhibition. The association of bilateral PMG with dystonia in our patients may represent a new neurogenetic disorder.

Type: Article
Title: Bilateral polymicrogyria associated with dystonia: A new neurogenetic syndrome?
Open access status: An open access version is available from UCL Discovery
DOI: 10.1002/ajmg.a.61795
Publisher version: http://dx.doi.org/10.1002/ajmg.a.61795
Language: Dutch
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: dystonia, magnetic resonance imaging, malformations of cortical development, polymicrogyria, PERISYLVIAN POLYMICROGYRIA, BASAL GANGLIA, MALFORMATIONS, FEATURES, GENETICS
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: https://discovery.ucl.ac.uk/id/eprint/10114916
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