Abstract
BackgroundAlström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neurological issues and demonstrate normal intelligence, although delayed psychomotor development and psychiatric disorders have been reported. To date, brain Magnetic Resonance Imaging (MRI) abnormalities in AS have not been explored.MethodsWe investigated structural brain changes in 12 genetically proven AS patients (mean-age 22 years; range: 6–45, 6 females) and 19 matched healthy and positive controls (mean-age 23 years; range: 6–43; 12 females) using conventional MRI, Voxel-Based Morphometry (VBM) and Diffusion Tensor Imaging (DTI).Results6/12 AS patients presented with brain abnormalities such as ventricular enlargement (4/12), periventricular white matter abnormalities (3/12) and lacune-like lesions (1/12); all patients older than 30 years had vascular-like lesions. VBM detected grey and white matter volume reduction in AS patients, especially in the posterior regions. DTI revealed significant fractional anisotropy decrease and radial diffusivity increase in the supratentorial white matter, also diffusely involving those regions that appeared normal on conventional imaging. On the contrary, axial and mean diffusivity did not differ from controls except in the fornix.ConclusionsBrain involvement in Alström syndrome is not uncommon. Early vascular-like lesions, gray and white matter atrophy, mostly involving the posterior regions, and diffuse supratentorial white matter derangement suggest a role of cilia in endothelial cell and oligodendrocyte function.
Highlights
Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy
The syndrome is multisystemic and major phenotypes include cone-rod retinal dystrophy leading to blindness, hearing loss, obesity, type 2 diabetes mellitus (T2DM), dilated cardiomyopathy, and progressive hepatic and renal failure [1]
Diffusion Tensor Imaging (DTI) Tract-Based Spatial Statistics (TBSS) analysis showed regions of significantly reduced fractional anisotropy and increased radial diffusivity in AS patients compared to controls (Figure 3)
Summary
Alström Syndrome (AS) is a rare ciliopathy characterized by cone–rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and cardiomyopathy. Most patients do not present with neurological issues and demonstrate normal intelligence, delayed psychomotor development and psychiatric disorders have been reported. Alström syndrome (AS; OMIM#203800) is an autosomal recessive rare disorder caused by mutations in ALMS1 (chromosome 2p13), with a frequency estimated at
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have