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Brain involvement in Alström syndrome.

Valentina Citton1, Angela Favaro, Vera Bettini

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Brain abnormalities are common in Alström syndrome (AS), a rare genetic disorder. Early imaging reveals white matter changes and atrophy, suggesting cilia

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Area of Science:

  • Neurology
  • Genetics
  • Radiology

Background:

  • Alström syndrome (AS) is a rare ciliopathy with diverse systemic manifestations.
  • Neurological involvement and brain imaging findings in AS remain largely unexplored.
  • Known AS features include retinal dystrophy, hearing loss, obesity, diabetes, and cardiomyopathy.

Purpose of the Study:

  • To investigate structural brain changes in patients with Alström syndrome using advanced MRI techniques.
  • To characterize the prevalence and nature of brain abnormalities in AS.

Main Methods:

  • Utilized conventional MRI, Voxel-Based Morphometry (VBM), and Diffusion Tensor Imaging (DTI).
  • Compared 12 genetically confirmed AS patients with 19 healthy controls.
  • Analyzed grey matter, white matter volumes, and white matter microstructure.

Main Results:

  • Brain abnormalities were observed in 6/12 AS patients, including ventricular enlargement and white matter lesions.
  • Patients over 30 years old exhibited vascular-like lesions.
  • VBM showed grey and white matter volume reduction, particularly in posterior regions.
  • DTI revealed widespread white matter microstructural changes (decreased FA, increased RD) in the supratentorial region.

Conclusions:

  • Brain involvement is frequent in Alström syndrome.
  • Early detection of vascular-like lesions, atrophy, and white matter derangement is crucial.
  • Findings suggest a role for cilia in endothelial and oligodendrocyte function within the brain.