Literature DB >> 23598830

Bilateral cavitations of ganglionic eminence: a fetal MR imaging sign of halted brain development.

A Righini1, C Frassoni, F Inverardi, C Parazzini, D Mei, C Doneda, T J Re, I Zucca, R Guerrini, R Spreafico, F Triulzi.   

Abstract

SUMMARY: Ganglionic eminence is the main transitory proliferative structure of the ventral telencephalon in human fetal brain and it contributes for at least 35% to the population of cortical interneurons; however data on the human GE anomalies are scarce. We report 5 fetal MR imaging observations with bilateral symmetric cavitations in their GE regions resembling an inverted open C shape and separating the GE itself form the deeper parenchyma. Imaging, neuropathology, and follow-up features suggested a malformative origin. All cases had in common characteristics of lissencephaly with agenesis or severe hypoplasia of corpus callosum of probable different genetic basis. From our preliminary observation, it seems that GE cavitations are part of conditions which are also accompanied by severe cerebral structure derangement.

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Year:  2013        PMID: 23598830      PMCID: PMC7965643          DOI: 10.3174/ajnr.A3508

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN: 0195-6108            Impact factor:   3.825


  14 in total

1.  X-linked lissencephaly with absent corpus callosum and ambiguous genitalia (XLAG): clinical, magnetic resonance imaging, and neuropathological findings.

Authors:  Dominique Bonneau; Annick Toutain; Annie Laquerrière; Stéphane Marret; Pascale Saugier-Veber; Marie-Anne Barthez; Sophie Radi; Valérie Biran-Mucignat; Diana Rodriguez; Antoinette Gélot
Journal:  Ann Neurol       Date:  2002-03       Impact factor: 10.422

Review 2.  Cell and molecular mechanisms involved in the migration of cortical interneurons.

Authors:  Christine Métin; Jean-Pierre Baudoin; Sonja Rakić; John G Parnavelas
Journal:  Eur J Neurosci       Date:  2006-02       Impact factor: 3.386

3.  Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans.

Authors:  Kunio Kitamura; Masako Yanazawa; Noriyuki Sugiyama; Hirohito Miura; Akiko Iizuka-Kogo; Masatomo Kusaka; Kayo Omichi; Rika Suzuki; Yuko Kato-Fukui; Kyoko Kamiirisa; Mina Matsuo; Shin-ichi Kamijo; Megumi Kasahara; Hidefumi Yoshioka; Tsutomu Ogata; Takayuki Fukuda; Ikuko Kondo; Mitsuhiro Kato; William B Dobyns; Minesuke Yokoyama; Ken-ichirou Morohashi
Journal:  Nat Genet       Date:  2002-10-15       Impact factor: 38.330

4.  Interneurons in the developing human neocortex.

Authors:  Nada Zecevic; Frances Hu; Igor Jakovcevski
Journal:  Dev Neurobiol       Date:  2011-01-01       Impact factor: 3.964

5.  Expansion of the first PolyA tract of ARX causes infantile spasms and status dystonicus.

Authors:  R Guerrini; F Moro; M Kato; A J Barkovich; T Shiihara; M A McShane; J Hurst; M Loi; J Tohyama; V Norci; K Hayasaka; U J Kang; S Das; W B Dobyns
Journal:  Neurology       Date:  2007-07-31       Impact factor: 9.910

6.  Origin of GABAergic neurons in the human neocortex.

Authors:  Kresimir Letinic; Roberto Zoncu; Pasko Rakic
Journal:  Nature       Date:  2002-06-06       Impact factor: 49.962

7.  Association between X-linked lissencephaly with ambiguous genitalia syndrome and lenticulostriate vasculopathy in neonate.

Authors:  Mateusz Jagła; Piotr Kruczek; Przemko Kwinta
Journal:  J Clin Ultrasound       Date:  2008 Jul-Aug       Impact factor: 0.910

Review 8.  Ganglionic eminence of the human fetal brain--new vistas.

Authors:  Norbert Ulfig
Journal:  Anat Rec       Date:  2002-07-01

Review 9.  A developmental and genetic classification for malformations of cortical development: update 2012.

Authors:  A James Barkovich; Renzo Guerrini; Ruben I Kuzniecky; Graeme D Jackson; William B Dobyns
Journal:  Brain       Date:  2012-03-16       Impact factor: 13.501

10.  Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation.

Authors:  Mitsuhiro Kato; Soma Das; Kristin Petras; Kunio Kitamura; Ken-Ichirou Morohashi; Diane N Abuelo; Mason Barr; Dominique Bonneau; Angela F Brady; Nancy J Carpenter; Karen L Cipero; Francesco Frisone; Takayuki Fukuda; Renzo Guerrini; Eri Iida; Masayuki Itoh; Amy Feldman Lewanda; Yukiko Nanba; Akira Oka; Virginia K Proud; Pascale Saugier-Veber; Susan L Schelley; Angelo Selicorni; Rachel Shaner; Margherita Silengo; Fiona Stewart; Noriyuki Sugiyama; Jun Toyama; Annick Toutain; Ana Lía Vargas; Masako Yanazawa; Elaine H Zackai; William B Dobyns
Journal:  Hum Mutat       Date:  2004-02       Impact factor: 4.878

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  3 in total

1.  Expanding the spectrum of human ganglionic eminence region anomalies on fetal magnetic resonance imaging.

Authors:  Andrea Righini; Claudia Cesaretti; Giorgio Conte; Cecilia Parazzini; Carolina Frassoni; Gaetano Bulfamante; Laura Avagliano; Francesca Inverardi; Giana Izzo; Mariangela Rustico
Journal:  Neuroradiology       Date:  2015-11-25       Impact factor: 2.804

Review 2.  Fetal magnetic resonance imaging: supratentorial brain malformations.

Authors:  Jungwhan John Choi; Edward Yang; Janet S Soul; Camilo Jaimes
Journal:  Pediatr Radiol       Date:  2020-11-30

3.  The Fetus with Ganglionic Eminence Abnormality: Head Size and Extracranial Sonographic Findings Predict Genetic Diagnoses and Postnatal Outcomes.

Authors:  S K Goergen; E Alibrahim; J Christie; A Dobrotwir; M Fahey; L Fender; K Frawley; S A Manikkam; J R Pinner; S Sinnott; R Romaniello; S A Sandaradura; J Taylor; A Vasudevan; A Righini
Journal:  AJNR Am J Neuroradiol       Date:  2021-05-06       Impact factor: 4.966

  3 in total

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