Subdural effusions and lack of early pontocerebellar hypoplasia in siblings with RARS2 mutations

Archives of Disease in Childhood

Volumn 98, Issue 12, 2013, Pages 1004-1007

  Kastrissianakis, Katherina ^a   Anand, Geetha ^a   Quaghebeur, Gerardine ^a   Price, Sue ^b   Prabhakar, Prab ^c   Marinova, Jasmina ^d   Brown, Garry ^e   McShane, Tony ^a  

^a OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b NORTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d KETTERING GENERAL HOSPITAL   (United Kingdom)

^e UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE TRANSFER RNA LIGASE; CLOBAZAM; ETIRACETAM; MITOCHONDRIAL ARGINYL TRANSFER RNA SYNTHETASE; PHENOBARBITAL; TOPIRAMATE; UNCLASSIFIED DRUG; VALPROIC ACID; VIGABATRIN;

ARTICLE; BRAIN ATROPHY; CASE REPORT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; ELECTROENCEPHALOGRAPHY; EPILEPSY; EVOKED VISUAL RESPONSE; FEEDING DIFFICULTY; FEMALE; GASTROSTOMY; GENE MUTATION; HEAD CIRCUMFERENCE; HUMAN; HYPOGLYCEMIA; MALE; MICROCEPHALY; MYELINATION; NEUROIMAGING; NEWBORN; NUCLEAR MAGNETIC RESONANCE IMAGING; PONTOCEREBELLAR HYPOPLASIA TYPE 6; PRIORITY JOURNAL; QUADRIPLEGIA; SEIZURE; SPASTICITY; SPONTANEOUS ABORTION; SUBARACHNOID SPACE; SUBDURAL EFFUSION; TENDON REFLEX;

EPILEPSY; MICROCEPHALY; PONTOCEREBELLAR HYPOPLASIA TYPE 6; RARS2; SUBDURAL EFFUSION;

ARGININE-TRNA LIGASE; CEREBELLUM; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INFANT; MALE; MUTATION; OLIVOPONTOCEREBELLAR ATROPHIES; PONS; SIBLINGS; SUBDURAL EFFUSION;

EID: 84888642870     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/archdischild-2013-304308     Document Type: Article

References (5)

1. Glamuzina E, Brown R, Hogarth K, et al . Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2. J Inherit Meab Dis 2012;35:459-67.
2. Cassandrini D, Cilio MR, Bianchi M, et al. Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: de finition of the clinical spectrum and molecular findings in five patients. J Inherit Metab Dis 2013;36:43-53.
3. Edvardson S, Shaag A, Kolesnikova O, et al. Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar Hypoplasia. Am J Hum Genet 2007;81:857-62.
4. Rankin J, Brown R, Dobyns WB, et al . Pontocerebellar hypoplasia type 6: a British case with PEHO-like features. Am J Hum Genet Part A 2010;152A:2079-84.
5. Namavar Y, Barth PG, Kasher PR, et al. Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia. Brain 2010;134:143-56.