Toggle Main Menu Toggle Search

Open Access padlockePrints

A novel ARX phenotype: Rapid neurodegeneration with Ohtahara Syndrome and a dyskinetic movement disorder

Lookup NU author(s): Professor Jeremy Parr


Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


ARX mutations are associated with variable clinical phenotypes. We report a new neurodegenerative phenotype associated with a known ARX mutation and causing early abnormal neurodevelopment, a complex movement disorder, and early infantile epileptic encephalopathy with a suppression-burst pattern (Ohtahara syndrome). A male infant presented at age 5 months with a dyskinetic movement disorder, which was initially diagnosed as infantile spasms. Clinical deterioration was accompanied by progressive cortical atrophy with a reduction in white matter volume and resulting in death in the first year of life; such a rapidly progressive and severe phenotype has not previously been described. ARX mutation testing should be undertaken in children aged less than 1 year with Ohtahara syndrome and a movement disorder, and in infants with unexplained neurodegeneration, progressive white matter loss, and cortical atrophy.

Publication metadata

Author(s): Absoud M, Parr J, Pretorius P, Zaiwalla Z, Jayawant S

Publication type: Article

Publication status: Published

Journal: Developmental Medicine and Child Neurology

Year: 2009

Volume: 52

Issue: 3

Pages: 305-307

Print publication date: 01/03/2010

Online publication date: 11/09/2009

ISSN (print): 0012-1622

ISSN (electronic): 1469-8749

Publisher: Mac Keith Press


DOI: 10.1111/j.1469-8749.2009.03470.x


Altmetrics provided by Altmetric