Publications

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Polymicrogyria: pathology, fetal origins and mechanisms Vrije Universiteit Brussel

Waney Squier, Anna Jansen
Polymicrogyria (PMG) is a complex cortical malformation which has so far defied any mechanistic or genetic explanation. Adopting a broad definition of an abnormally folded or festooned cerebral cortical neuronal ribbon, this review addresses the literature on PMG and the mechanisms of its development, as derived from the neuropathological study of many cases of human PMG, a large proportion in fetal life. This reveals the several processes which ...

Genetic heterogeneity of polymicrogyria University of Antwerp Vrije Universiteit Brussel

Chloe A. Stutterd, Stefanie Brock, Katrien Stouffs, Miriam Fanjul-Fernandez, Paul J. Lockhart, George McGillivray, Simone Mandelstam, Kate Pope, Martin B. Delatycki, Anna Jansen, et al.
Polymicrogyria is a malformation of cortical development characterized by overfolding and abnormal lamination of the cerebral cortex. Manifestations include epilepsy, speech disturbance and motor and cognitive disability. Causes include acquired prenatal insults and inherited and de novo genetic variants. The proportion of patients with polymicrogyria and a causative germline or mosaic variant is not known. The aim of this study was to identify ...

The histopathology of polymicrogyria: a series of 71 brain autopsy studies. Vrije Universiteit Brussel

Anna Jansen, Y. Robitaille, M. Honavar, N. Mullatti, Richard Leventer, E Andermann, Frederick Andermann, Waney Squier
AIM:

Polymicrogyria (PMG) is one of the most common forms of cortical malformation yet the mechanism of its development remains unknown. This study describes the histopathological aspects of PMG in a large series including a significant proportion of fetal cases.
METHOD:

We have reviewed the neuropathology and medical records of 44 fetuses and 27 children and adults in whom the cortical architecture was focally or ...

Polymicrogyria with dysmorphic basal ganglia? Think tubulin! Vrije Universiteit Brussel

D. Amrom, Ibrahim Tanyalcin, H. Verhelst, N. Deconinck, Gary Brouhard, Jean-Claude Decarie, Tim Vanderhasselt, S. Das, Fadi F1 Hamdan, W. Lissens, et al.
Background: Dominant mutations in TUBB2B have been reported in patients with
polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B.
Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations in
TUBB2B by Sanger sequencing.
Results: We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and
c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B in three ...

Polymicrogyria with dismorphic basal ganglia? Think tuberculin! (accepted) Vrije Universiteit Brussel

D. Amrom, Ibrahim Tanyalcin, Helene Verhelst, N. Deconinck, Gary Brouhard, Jean-Claude Decarie, Tim Vanderhasselt, Soma Das, Fadi F1 Hamdan, W. Lissens, et al.
Background: Dominant mutations in TUBB2B have been reported in patients with
polymicrogyria. We further explore the phenotype associated with mutations in TUBB2B.
Methods: Twenty patients with polymicrogyria (5 unilateral) were tested for mutations in
TUBB2B by Sanger sequencing.
Results: We identified two novel de novo mutations, c.743C>T (p.Ala248Val) and
c.1139G>T (p.Arg380Leu) in exon 4 of TUBB2B in three ...

Recurrent NEDD4L variant in periventricular nodular heterotopia, polymicrogyria and syndactyly Ghent University University of Antwerp Vrije Universiteit Brussel

K Stouffs, Patrick Verloo, S Brock, L Régal, D Beysen, B Ceulemans, AC Jansen, Meuwissen MEC
NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft palate, and syndactyly. All reported variants are located in the HECT domain, causing deregulation of signaling pathways, including the AKT/mTOR pathway. Here we describe a first familial case with four ...

Duplication 2p16 is associated with perisylvian polymicrogyria Vrije Universiteit Brussel

Dina Amrom, Annapurna Poduri, Jennifer S Goldman, Bernard Dan, Nicolas Deconinck, Bruno Pichon, Javad Nadaf, Frederick Andermann, Eva Andermann, Christopher A Walsh, et al.

Polymicrogyria (PMG) is a heterogeneous brain malformation that may result from prenatal vascular disruption or infection, or from numerous genetic causes that still remain difficult to identify. We identified three unrelated patients with polymicrogyria and duplications of chromosome 2p, defined the smallest region of overlap, and performed gene pathway analysis using Cytoscape. The smallest region of overlap in all three children involved ...

Speech and language in bilateral perisylvian polymicrogyria Vrije Universiteit Brussel

Ruth O Braden, Richard J Leventer, Anna Jansen, Ingrid E Scheffer, Angela T Morgan

AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polymicrogyria (BPP), and examine the correlation between the topography of polymicrogyria and the severity of speech, language, and oral functional impairment.

METHOD: A systematic search of MEDLINE, Embase, and PubMed databases was completed on 26th October 2017 using Medical Subject Heading terms synonymous ...

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients. Vrije Universiteit Brussel

Richard Leventer, Anna Jansen, Daniela Pilz, Nick Stoodley, Carla Marini, François Dubeau, J. Malone, L. Anne Mitchell, Simone Mandelstam, Ingrid Scheffer, et al.
Polymicrogyria is one of the most common malformations of cortical development and is associated with a variety of clinical sequelae including epilepsy, intellectual disability, motor dysfunction and speech disturbance. It has heterogeneous clinical manifestations and imaging patterns, yet large cohort data defining the clinical and imaging spectrum and the relative frequencies of each subtype are lacking. The aims of this study were to ...

TUBA1A mutations Vrije Universiteit Brussel KU Leuven

Anna Jansen, A Oostra, B Desprechins, Yannick De Vlaeminck, L Régal, P Verloo, N Bockaert, K. Keymolen, Sara Seneca, Linda De Meirleir, et al.

BACKGROUND: Mutations in the TUBA1A gene have been reported in patients with lissencephaly and perisylvian pachygyria.

METHODS: Twenty-five patients with malformations of cortical development ranging from lissencephaly to polymicrogyria were screened for mutations in TUBA1A.

RESULTS: Two novel heterozygous missense mutations in TUBA1A were identified: c.629A>G (p.Tyr210Cys) occurring de novo in a boy with lissencephaly, and ...