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The First Report of CADASIL in Peru: Olfactory Dysfunction on Initial Presentation.

Anastasia Vishnevetsky1,2,3, Miguel Inca-Martinez1, Karina Milla-Neyra1

  • 1Neurogenetics Research Center, Instituto Nacional de Ciencias Neurológicas. Lima, Peru.

Eneurologicalsci
|May 24, 2017
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Summary

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) can present with severe olfactory deficits. This Peruvian family study highlights anosmia as a potential early sign of this rare genetic small vessel disease.

Keywords:
CADASILMRINOTCH3PeruSouth Americaolfactionolfactory dysfunctionstroke

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Area of Science:

  • Neurology
  • Genetics
  • Vascular Biology

Background:

  • Cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL) is a rare, inherited small vessel disease.
  • It is caused by NOTCH3 gene mutations and typically presents with migraines, cognitive decline, and mood disturbances.
  • Unusual symptoms like seizures or movement disorders can occur, but olfactory deficits are less commonly reported.

Purpose of the Study:

  • To describe the clinical, genetic, and radiologic features of a Peruvian family with CADASIL.
  • To investigate the prevalence and severity of olfactory dysfunction in affected family members.
  • To highlight olfactory deficits as a potential, unusual presentation of CADASIL.

Main Methods:

  • Clinical assessment of seven family members with suspected CADASIL.
  • Genetic testing for NOTCH3 mutations (R133C identified).
  • Cognitive and olfactory identification testing (Smell Identification Test) on three affected individuals.

Main Results:

  • Seven family members exhibited symptoms consistent with CADASIL.
  • Genetic analysis confirmed R133C NOTCH3 mutations in two tested patients.
  • Olfactory testing revealed total anosmia in two patients and severe hyposmia in one.

Conclusions:

  • This study reports the first cases of CADASIL in Peru.
  • Severe olfactory dysfunction, including anosmia, can be an unusual presenting symptom of CADASIL.
  • Evaluating olfactory function is crucial in patients with suspected or confirmed CADASIL.