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Am J Med Genet A. 2014 Sep;164A(9):2388-90. doi: 10.1002/ajmg.a.36635. Epub 2014 Jul 10.

A novel WDR45 mutation in a patient with static encephalopathy of childhood with neurodegeneration in adulthood (SENDA).

Author information

  • 1Department of Neurology, Tokyo Metropolitan Neurological Hospital, Fuchu, Tokyo, Japan.

Abstract

Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant neurodegenerative disorder, and is classified as a subtype of neurodegeneration with brain iron accumulation. Recently, de novo heterozygous mutations in WDR45 at Xp11.23 have been reported in patients with SENDA. We report the clinical and neuroradiological findings of a patient with SENDA with a novel c.322del mutation in WDR45. In this patient, characteristic MRI findings were useful for diagnosis.

KEYWORDS:

WDR45; magnetic resonance imaging (MRI); static encephalopathy of childhood with neurodegenartion in adulthood (SENDA)

PMID:
25044655
PMCID:
PMC4278411
DOI:
10.1002/ajmg.a.36635
[PubMed - indexed for MEDLINE]
Free PMC Article
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