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Irene J Chang


Irene J Chang published latest article in American journal of medical genetics. Part A entitled Novel pregnancy-triggered episodes of CAPOS syndrome. This article is available in PubMed with an unique identification number PMID: 29090527 and it is published in 2018. The coauthors of this article are Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA.

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Article Title: Novel pregnancy-triggered episodes of CAPOS syndrome.

Co-Author(s): Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA

Affiliation(s): Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, Seattle, Washington.

PMID 29090527, Year 2018

Abstract: Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome (OMIM# 601338) is a rare autosomal dominant disorder characterized by episodic, fever-induced ataxic encephalopathy in childhood with residual symptoms. All identified patients have the same heterozygous missense variant c.2452G>A (p.Glu818Lys) in the ATP1A3 gene, encoding Na+ /K+ ATPase ?3. We describe a large CAPOS pedigree with three generations of affected members, the first ascertained in the United States. Deafness, optic atrophy, and pes cavus were present in all three members of the family evaluated. In addition, one of the affected individuals experienced markedly worsening features during her three pregnancies and in the immediate postpartum period, a potential element of the natural history of CAPOS previously unreported. We conclude that the triggering factors and clinical spectrum of pathogenic ATP1A3 variants may be broader than previously described. Targeted sequencing of ATP1A3 should be considered in any patient presenting with cerebellar ataxia triggered by febrile illness, or pregnancy and delivery, especially in the presence of sensorineural hearing loss, optic atrophy, pes cavus, or early childhood history of acute encephalopathic ataxia. Prophylactic administration of acetazolamide or flunarizine may prevent acute episodes of ataxia or mitigate neurologic symptoms, although their efficacies have not been well studied.

Journal: American journal of medical genetics. Part A

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