Literature DB >> 24924738

Pontocerebellar hypoplasia.

Sabine Rudnik-Schöneborn, Peter G Barth, Klaus Zerres.   

Abstract

Pontocerebellar hypoplasia (PCH) is a clinically and genetically heterogeneous group of autosomal recessively inherited neurodevelopmental disorders. Following the rapidly increasing number of genes identified in different subtypes, the clinical spectrum has been broadened to completely different neurological phenotypes. In this review we will address the clinical picture, neuroradiological, pathoanatomic, and genetic findings in the currently known PCH subtypes.
© 2014 Wiley Periodicals, Inc.

Entities:  

Keywords:  classification; genetics; pontocerebellar hypoplasia

Mesh：

Year:  2014        PMID： 24924738     DOI： 10.1002/ajmg.c.31403

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN： 1552-4868            Impact factor:   3.908


  25 in total

1.  Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Authors:  Ekaterina L Ivanova; Frédéric Tran Mau-Them; Saima Riazuddin; Kimia Kahrizi; Vincent Laugel; Elise Schaefer; Anne de Saint Martin; Karen Runge; Zafar Iqbal; Marie-Aude Spitz; Mary Laura; Nathalie Drouot; Bénédicte Gérard; Jean-François Deleuze; Arjan P M de Brouwer; Attia Razzaq; Hélène Dollfus; Muhammad Zaman Assir; Patrick Nitchké; Maria-Victoria Hinckelmann; Hilger Ropers; Sheikh Riazuddin; Hossein Najmabadi; Hans van Bokhoven; Jamel Chelly
Journal:  Am J Hum Genet       Date:  2017-08-17       Impact factor: 11.025

2.  Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.

Authors:  Isaac Marin-Valencia; Andreas Gerondopoulos; Maha S Zaki; Tawfeg Ben-Omran; Mariam Almureikhi; Ercan Demir; Alicia Guemez-Gamboa; Anne Gregor; Mahmoud Y Issa; Bart Appelhof; Susanne Roosing; Damir Musaev; Basak Rosti; Sara Wirth; Valentina Stanley; Frank Baas; Francis A Barr; Joseph G Gleeson
Journal:  Am J Hum Genet       Date:  2017-08-17       Impact factor: 11.025

3.  Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness.

Authors:  Anne Slavotinek; Doriana Misceo; Stephanie Htun; Linda Mathisen; Eirik Frengen; Michelle Foreman; Jennifer E Hurtig; Liz Enyenihi; Maria C Sterrett; Sara W Leung; Dina Schneidman-Duhovny; Juvianee Estrada-Veras; Jacque L Duncan; Charlotte A Haaxma; Erik-Jan Kamsteeg; Vivian Xia; Daniah Beleford; Yue Si; Ganka Douglas; Hans Einar Treidene; Ambro van Hoof; Milo B Fasken; Anita H Corbett
Journal:  Hum Mol Genet       Date:  2020-08-03       Impact factor: 6.150

4.  Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

Authors:  Fanny Kortüm; Rami Abou Jamra; Malik Alawi; Susan A Berry; Guntram Borck; Katherine L Helbig; Sha Tang; Dagmar Huhle; Georg Christoph Korenke; Malavika Hebbar; Anju Shukla; Katta M Girisha; Maja Steinlin; Sandra Waldmeier-Wilhelm; Martino Montomoli; Renzo Guerrini; Johannes R Lemke; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2018-02-20       Impact factor: 4.246

Review 5.  Update on neuroimaging phenotypes of mid-hindbrain malformations.

Authors:  Patrice Jissendi-Tchofo; Mariasavina Severino; Béatrice Nguema-Edzang; Cissé Toure; Gustavo Soto Ares; Anthony James Barkovich
Journal:  Neuroradiology       Date:  2014-10-23       Impact factor: 2.804

6.  De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy.

Authors:  Monica H Wojcik; Kyoko Okada; Sanjay P Prabhu; Dan W Nowakowski; Keri Ramsey; Chris Balak; Sampath Rangasamy; Catherine A Brownstein; Klaus Schmitz-Abe; Julie S Cohen; Ali Fatemi; Jiahai Shi; Ellen P Grant; Vinodh Narayanan; Hsin-Yi Henry Ho; Pankaj B Agrawal
Journal:  Am J Med Genet A       Date:  2018-08-27       Impact factor: 2.802

7.  Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

Authors:  Jijun Wan; Janos Steffen; Michael Yourshaw; Hafsa Mamsa; Erik Andersen; Sabine Rudnik-Schöneborn; Kate Pope; Katherine B Howell; Catriona A McLean; Andrew J Kornberg; Jörg Joseph; Paul J Lockhart; Klaus Zerres; Monique M Ryan; Stanley F Nelson; Carla M Koehler; Joanna C Jen
Journal:  Brain       Date:  2016-11-01       Impact factor: 13.501

8.  Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.

Authors:  Tamar Harel; Gozde Yesil; Yavuz Bayram; Zeynep Coban-Akdemir; Wu-Lin Charng; Ender Karaca; Ali Al Asmari; Mohammad K Eldomery; Jill V Hunter; Shalini N Jhangiani; Jill A Rosenfeld; Davut Pehlivan; Ayman W El-Hattab; Mohammed A Saleh; Charles A LeDuc; Donna Muzny; Eric Boerwinkle; Richard A Gibbs; Wendy K Chung; Yaping Yang; John W Belmont; James R Lupski
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

9.  CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.

Authors:  Ashley P L Marsh; Gaia Novarino; Paul J Lockhart; Richard J Leventer
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

10.  Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.

Authors:  Kazuhiro Iwama; Masayuki Sasaki; Shinichi Hirabayashi; Chihiro Ohba; Emi Iwabuchi; Satoko Miyatake; Mitsuko Nakashima; Noriko Miyake; Shuichi Ito; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2016-02-18       Impact factor: 3.172
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