期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 164, 期 9, 页码 2388-2390出版社
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.36635
关键词
static encephalopathy of childhood with neurodegenartion in adulthood (SENDA); WDR45; magnetic resonance imaging (MRI)
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 SENDAwith a novel c.322del mutation in WDR45. In this patient, characteristic MRI findings were useful for diagnosis. (C) 2014 The Authors.
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