AI Article Synopsis
- Static encephalopathy of childhood with neurodegeneration in adulthood (SENDA) is an X-linked dominant disorder linked to neurodegeneration and brain iron buildup.
- Recent studies have identified new mutations in the WDR45 gene associated with SENDA.
- A patient with a novel c.322del mutation showed distinct MRI characteristics that aided in diagnosis.
Article 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.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4278411 | PMC |
| http://dx.doi.org/10.1002/ajmg.a.36635 | DOI Listing |
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