Literature DB >> 23518331

Midbrain and hindbrain malformations: advances in clinical diagnosis, imaging, and genetics.

Dan Doherty1, Kathleen J Millen, A James Barkovich.   

Abstract

Historically, the midbrain and hindbrain have been considered of secondary importance to the cerebrum, which has typically been acknowledged as the most important part of the brain. In the past, radiologists and pathologists did not regularly examine these structures-also known as the brainstem and cerebellum-because they are small and difficult to remove without damage. With recent developments in neuroimaging, neuropathology, and neurogenetics, many developmental disorders of the midbrain and hindbrain have emerged as causes of neurodevelopmental dysfunction. These research advances may change the way in which we treat these patients in the future and will enhance the clinical acumen of the practising neurologist and thereby improve the diagnosis and treatment of these patients.
Copyright © 2013 Elsevier Ltd. All rights reserved.

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Year:  2013        PMID: 23518331      PMCID: PMC4158743          DOI: 10.1016/S1474-4422(13)70024-3

Source DB:  PubMed          Journal:  Lancet Neurol        ISSN: 1474-4422            Impact factor:   44.182


  109 in total

Review 1.  The fetal cerebellum: development and common malformations.

Authors:  Catherine Garel; Catherine Fallet-Bianco; Laurent Guibaud
Journal:  J Child Neurol       Date:  2011-09-27       Impact factor: 1.987

2.  Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Authors:  Yiumo Michael Chan; Elizabeth Keramaris-Vrantsis; Hart G Lidov; James H Norton; Natalia Zinchenko; Helen E Gruber; Randy Thresher; Derek J Blake; Jignya Ashar; Jeffrey Rosenfeld; Qi L Lu
Journal:  Hum Mol Genet       Date:  2010-07-30       Impact factor: 6.150

3.  Cardiovascular defects in a mouse model of HOXA1 syndrome.

Authors:  Nadja Makki; Mario R Capecchi
Journal:  Hum Mol Genet       Date:  2011-09-22       Impact factor: 6.150

4.  Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms.

Authors:  Nien-Yi Chiang; Cheng-Chih Hsiao; Yi-Shu Huang; Hsin-Yi Chen; I-Ju Hsieh; Gin-Wen Chang; Hsi-Hsien Lin
Journal:  J Biol Chem       Date:  2011-02-24       Impact factor: 5.157

5.  TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Authors:  Yasmin Namavar; David Chitayat; Peter G Barth; Fred van Ruissen; Marit B de Wissel; Bwee Tien Poll-The; Rachel Silver; Frank Baas
Journal:  Eur J Hum Genet       Date:  2011-02-02       Impact factor: 4.246

6.  Spectrum of neurodevelopmental disabilities in children with cerebellar malformations.

Authors:  Marie-Eve Bolduc; Adré J Du Plessis; Nancy Sullivan; Omar S Khwaja; Xun Zhang; Katherine Barnes; Richard L Robertson; Catherine Limperopoulos
Journal:  Dev Med Child Neurol       Date:  2011-03-21       Impact factor: 5.449

Review 7.  Ciliopathies.

Authors:  Friedhelm Hildebrandt; Thomas Benzing; Nicholas Katsanis
Journal:  N Engl J Med       Date:  2011-04-21       Impact factor: 91.245

8.  Mutations in the neuronal ß-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects.

Authors:  Karine Poirier; Yoann Saillour; Nadia Bahi-Buisson; Xavier H Jaglin; Catherine Fallet-Bianco; Rima Nabbout; Laetitia Castelnau-Ptakhine; Agathe Roubertie; Tania Attie-Bitach; Isabelle Desguerre; David Genevieve; Christine Barnerias; Boris Keren; Nicolas Lebrun; Nathalie Boddaert; Féréchté Encha-Razavi; Jamel Chelly
Journal:  Hum Mol Genet       Date:  2010-09-09       Impact factor: 6.150

9.  Migration, early axonogenesis, and Reelin-dependent layer-forming behavior of early/posterior-born Purkinje cells in the developing mouse lateral cerebellum.

Authors:  Takaki Miyata; Yuichi Ono; Mayumi Okamoto; Makoto Masaoka; Akira Sakakibara; Ayano Kawaguchi; Mitsuhiro Hashimoto; Masaharu Ogawa
Journal:  Neural Dev       Date:  2010-09-01       Impact factor: 3.842

10.  Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Authors:  Yasmin Namavar; Peter G Barth; Paul R Kasher; Fred van Ruissen; Knut Brockmann; Günther Bernert; Karin Writzl; Karen Ventura; Edith Y Cheng; Donna M Ferriero; Lina Basel-Vanagaite; Veerle R C Eggens; Ingeborg Krägeloh-Mann; Linda De Meirleir; Mary King; John M Graham; Arpad von Moers; Nine Knoers; Laszlo Sztriha; Rudolf Korinthenberg; William B Dobyns; Frank Baas; Bwee Tien Poll-The
Journal:  Brain       Date:  2010-10-15       Impact factor: 15.255

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  28 in total

Review 1.  The genetics of cerebellar malformations.

Authors:  Kimberly A Aldinger; Dan Doherty
Journal:  Semin Fetal Neonatal Med       Date:  2016-05-07       Impact factor: 3.926

2.  Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?

Authors:  Andrea Poretti; Martin Häusler; Arpad von Moers; Bastian Baumgartner; Klaus Zerres; Andrea Klein; Chiara Aiello; Francesca Moro; Ginevra Zanni; Filippo M Santorelli; Thierry A G M Huisman; Joachim Weis; Enza Maria Valente; Enrico Bertini; Eugen Boltshauser
Journal:  Cerebellum       Date:  2014-02       Impact factor: 3.847

3.  A fully automated high-throughput workflow for 3D-based chemical screening in human midbrain organoids.

Authors:  Henrik Renner; Martha Grabos; Katharina J Becker; Theresa E Kagermeier; Jie Wu; Mandy Otto; Stefan Peischard; Dagmar Zeuschner; Yaroslav TsyTsyura; Paul Disse; Jürgen Klingauf; Sebastian A Leidel; Guiscard Seebohm; Hans R Schöler; Jan M Bruder
Journal:  Elife       Date:  2020-11-03       Impact factor: 8.140

4.  Hindbrain malformation and myoclonic seizures associated with a deleterious mutation in the INPP4A gene.

Authors:  Ruth Sheffer; Odeya Bennett-Back; Barak Yaacov; Simon Edvardson; Moshe Gomori; Marion Werner; Duha Fahham; Irene Anteby; Ayala Frumkin; Vardiella Meiner; Orly Elpeleg
Journal:  Neurogenetics       Date:  2014-10-22       Impact factor: 2.660

Review 5.  Magnetic resonance imaging of the brainstem in children, part 1: imaging techniques, embryology, anatomy and review of congenital conditions.

Authors:  Asha Sarma; Josh M Heck; Josephine Ndolo; Allen Newton; Sumit Pruthi
Journal:  Pediatr Radiol       Date:  2021-01-26

6.  Longitudinal Assessment of Neuroradiologic Features in Wolfram Syndrome.

Authors:  A Samara; H M Lugar; T Hershey; J S Shimony
Journal:  AJNR Am J Neuroradiol       Date:  2020-10-29       Impact factor: 3.825

7.  Disorders of Microtubule Function in Neurons: Imaging Correlates.

Authors:  C A Mutch; A Poduri; M Sahin; B Barry; C A Walsh; A J Barkovich
Journal:  AJNR Am J Neuroradiol       Date:  2015-11-12       Impact factor: 3.825

8.  Expanding the spectrum of congenital anomalies of the diencephalic-mesencephalic junction.

Authors:  Mariasavina Severino; Domenico Tortora; Angela Pistorio; Luca Antonio Ramenghi; Flavia Napoli; Maria Margherita Mancardi; Pasquale Striano; Valeria Capra; Andrea Rossi
Journal:  Neuroradiology       Date:  2015-10-07       Impact factor: 2.804

9.  Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Authors:  Alessia Micalizzi; Andrea Poretti; Marta Romani; Monia Ginevrino; Tommaso Mazza; Chiara Aiello; Ginevra Zanni; Bastian Baumgartner; Renato Borgatti; Knut Brockmann; Ana Camacho; Gaetano Cantalupo; Martin Haeusler; Christiane Hikel; Andrea Klein; Giorgia Mandrile; Eugenio Mercuri; Dietz Rating; Romina Romaniello; Filippo Maria Santorelli; Mareike Schimmel; Luigina Spaccini; Serap Teber; Arpad von Moers; Sarah Wente; Andreas Ziegler; Andrea Zonta; Enrico Bertini; Eugen Boltshauser; Enza Maria Valente
Journal:  Eur J Hum Genet       Date:  2016-03-02       Impact factor: 4.246

10.  Posterior fossa in primary microcephaly: relationships between forebrain and mid-hindbrain size in 110 patients.

Authors:  Yuko Adachi; Ganeshwaran Mochida; Christopher Walsh; James Barkovich
Journal:  Neuropediatrics       Date:  2013-11-14       Impact factor: 1.947

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