Literature DB >> 22764177

Childhood cerebellar ataxia.

Brent L Fogel1.   

Abstract

Childhood presentations of ataxia, an impairment of balance and coordination caused by damage to or dysfunction of the cerebellum, can often be challenging to diagnose. Presentations tend to be clinically heterogeneous, but key considerations may vary based on the child's age at onset, the course of illness, and subtle differences in phenotype. Systematic investigation is recommended for efficient diagnosis. In this review, we outline common etiologies and describe a comprehensive approach to the evaluation of both acquired and genetic cerebellar ataxia in children.

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Year:  2012        PMID: 22764177      PMCID: PMC3490706          DOI: 10.1177/0883073812448231

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  34 in total

1.  Novel mutations in the senataxin DNA/RNA helicase domain in ataxia with oculomotor apraxia 2.

Authors:  Brent L Fogel; Susan Perlman
Journal:  Neurology       Date:  2006-12-12       Impact factor: 9.910

Review 2.  Differential diagnosis of cerebellar atrophy in childhood.

Authors:  Andrea Poretti; Nicole I Wolf; Eugen Boltshauser
Journal:  Eur J Paediatr Neurol       Date:  2007-09-14       Impact factor: 3.140

Review 3.  Sequencing technologies - the next generation.

Authors:  Michael L Metzker
Journal:  Nat Rev Genet       Date:  2009-12-08       Impact factor: 53.242

4.  Interpretation of genetic testing: variants of unknown significance.

Authors:  Brent L Fogel
Journal:  Continuum (Minneap Minn)       Date:  2011-04

Review 5.  Minor head injuries in children - an approach to management.

Authors:  Carl Lückhoff; Mike Starr
Journal:  Aust Fam Physician       Date:  2010-05

Review 6.  Clinical features and molecular genetics of autosomal recessive cerebellar ataxias.

Authors:  Brent L Fogel; Susan Perlman
Journal:  Lancet Neurol       Date:  2007-03       Impact factor: 44.182

Review 7.  Friedreich ataxia: the clinical picture.

Authors:  Massimo Pandolfo
Journal:  J Neurol       Date:  2009-03       Impact factor: 4.849

Review 8.  Cerebellar ataxias.

Authors:  Mario Manto; Daniele Marmolino
Journal:  Curr Opin Neurol       Date:  2009-08       Impact factor: 5.710

Review 9.  Non-progressive congenital ataxias.

Authors:  M Steinlin
Journal:  Brain Dev       Date:  1998-06       Impact factor: 1.961

10.  Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.

Authors:  Caroline Sevin; Sacha Ferdinandusse; Hans R Waterham; Ronald J Wanders; Patrick Aubourg
Journal:  Orphanet J Rare Dis       Date:  2011-03-10       Impact factor: 4.123

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  15 in total

Review 1.  Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

Authors:  Vikram G Shakkottai; Brent L Fogel
Journal:  Neurol Clin       Date:  2013-07-30       Impact factor: 3.806

2.  Utilization of genetic testing prior to subspecialist referral for cerebellar ataxia.

Authors:  Brent L Fogel; Barbara G Vickrey; Jenny Walton-Wetzel; Eli Lieber; Carole H Browner
Journal:  Genet Test Mol Biomarkers       Date:  2013-06-01

3.  Mutation of senataxin alters disease-specific transcriptional networks in patients with ataxia with oculomotor apraxia type 2.

Authors:  Brent L Fogel; Ellen Cho; Amanda Wahnich; Fuying Gao; Olivier J Becherel; Xizhe Wang; Francesca Fike; Leslie Chen; Chiara Criscuolo; Giuseppe De Michele; Alessandro Filla; Abigail Collins; Angelika F Hahn; Richard A Gatti; Genevieve Konopka; Susan Perlman; Martin F Lavin; Daniel H Geschwind; Giovanni Coppola
Journal:  Hum Mol Genet       Date:  2014-04-23       Impact factor: 6.150

4.  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.

Authors:  Brent L Fogel; Hane Lee; Joshua L Deignan; Samuel P Strom; Sibel Kantarci; Xizhe Wang; Fabiola Quintero-Rivera; Eric Vilain; Wayne W Grody; Susan Perlman; Daniel H Geschwind; Stanley F Nelson
Journal:  JAMA Neurol       Date:  2014-10       Impact factor: 18.302

5.  Sporadic infantile-onset spinocerebellar ataxia caused by missense mutations of the inositol 1,4,5-triphosphate receptor type 1 gene.

Authors:  Masayuki Sasaki; Chihiro Ohba; Mizue Iai; Shinichi Hirabayashi; Hitoshi Osaka; Takuya Hiraide; Hirotomo Saitsu; Naomichi Matsumoto
Journal:  J Neurol       Date:  2015-03-21       Impact factor: 4.849

6.  Anti-homer-3 Antibody Encephalitis in a 10-Year-Old Child: Case Report and Review of the Literature.

Authors:  Zuying Kuang; José Fidel Baizabal-Carvallo; Mohammad Mofatteh; Sifen Xie; Zhanhang Wang; Yimin Chen
Journal:  Front Neurol       Date:  2022-06-13       Impact factor: 4.086

Review 7.  DNA repair abnormalities leading to ataxia: shared neurological phenotypes and risk factors.

Authors:  Edward C Gilmore
Journal:  Neurogenetics       Date:  2014-07-20       Impact factor: 2.660

8.  Homozygous GRID2 missense mutation predicts a shift in the D-serine binding domain of GluD2 in a case with generalized brain atrophy and unusual clinical features.

Authors:  Zafar Ali; Shumaila Zulfiqar; Joakim Klar; Johan Wikström; Farid Ullah; Ayaz Khan; Uzma Abdullah; Shahid Baig; Niklas Dahl
Journal:  BMC Med Genet       Date:  2017-12-06       Impact factor: 2.103

9.  Dance Improves Motor, Cognitive, and Social Skills in Children With Developmental Cerebellar Anomalies.

Authors:  Valentin Bégel; Asaf Bachrach; Simone Dalla Bella; Julien Laroche; Sylvain Clément; Audrey Riquet; Delphine Dellacherie
Journal:  Cerebellum       Date:  2021-06-24       Impact factor: 3.847

10.  Lipopolysaccharide administration for a mouse model of cerebellar ataxia with neuroinflammation.

Authors:  Jungwan Hong; Dongyeong Yoon; Youngpyo Nam; Donggun Seo; Jong-Heon Kim; Min Sung Kim; Tae Yong Lee; Kyung Suk Kim; Pan-Woo Ko; Ho-Won Lee; Kyoungho Suk; Sang Ryong Kim
Journal:  Sci Rep       Date:  2020-08-07       Impact factor: 4.379

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