Brain involvement in Alström syndrome.

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.