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Periventricular Hyperintensities Mimicking Multiple Sclerosis.

Sidra Saleem1, Arsalan Anwar2, Zainab Abbasi3

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Summary
This summary is machine-generated.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) can mimic multiple sclerosis (MS) symptoms. Genetic testing for NOTCH3 mutations is crucial for accurate CADASIL diagnosis, preventing misdiagnosis and inappropriate MS treatment.

Area of Science:

  • Neurology
  • Genetics
  • Vascular Medicine

Background:

Keywords:
cadasilhyperintensitymultiple sclerosismutation

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  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a genetic small-to-medium-sized vessel disease.
  • It involves degeneration of vascular smooth muscles, primarily linked to NOTCH3 gene mutations.
  • Core clinical features include migraine, ischemic events, cognitive decline, and psychiatric symptoms.