Abstract:
:CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a progressive neurodegenerative condition, associated with mutations in the notch3 gene. Symptoms include migraine with aura, mood disorders, progressive cognitive decline, subcortical ischemic strokes, dementia, and premature death. We present an 8-year-old boy with attention and behavioral difficulties, as well as a family history of the condition. Magnetic resonance imaging revealed subcortical foci of increased T2 hyperintensity, and sequencing of the notch3 gene revealed 1 previously reported mutation and 1 novel sequence variant. Neurocognitive assessment revealed deficits in several aspects of executive functioning and in verbal learning. To our knowledge, this is the youngest reported patient with this condition, and it prompts reconsideration of CADASIL as an adult-onset disease.
journal_name
J Child Neuroljournal_title
Journal of child neurologyauthors
Hartley J,Westmacott R,Decker J,Shroff M,Yoon Gdoi
10.1177/0883073810361382subject
Has Abstractpub_date
2010-05-01 00:00:00pages
623-7issue
5eissn
0883-0738issn
1708-8283pii
0883073810361382journal_volume
25pub_type
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