Degeneration and plasticity of the optic pathway in AlströmSyndrome

R. Manara, Valentina Citton, P. Maffei, J. D. Marshall, J. K. Naggert, G. Milan, R. Vettor, A. Baglione, A. Vitale, C. Briani, F. Di Salle, A. Favaro

Research output: Contribution to journalArticle

Abstract

Background and Purpose: Alström syndrome is a rare inherited ciliopathy in which early progressive cone-rod dystrophy leads to childhood blindness. We investigated functional and structural changes of the optic pathway in Alströmsyndrome by using MR imaging to provide insight into the underlying pathogenic mechanisms. Materials and Methods: Eleven patients with genetically proved Alström syndrome (mean age, 23 years; range, 6-45 years; 5 females) and 19 age- and sex-matched controls underwent brain MR imaging. The study protocol included conventional sequences, resting-state functional MR imaging, and diffusion tensor imaging. Results: In patients with Alströmsyndrome, the evaluation of the occipital regions showed the following: 1) diffuse white matter volume decrease while gray matter volume decrease spared the occipital poles (voxel-based morphometry), 2) diffuse fractional anisotropy decrease and radial diffusivity increase while mean and axial diffusivities were normal (tract-based spatial statistics), and 3) reduced connectivity in the medial visual network strikingly sparing the occipital poles (independent component analysis). After we placed seeds in both occipital poles, the seed-based analysis revealed significantly increased connectivity in patients with Alströmsyndrome toward the left frontal operculum, inferior and middle frontal gyri, and the medial portion of both thalami (left seed) and toward the anterior portion of the left insula (right and left seeds). Conclusions: The protean occipital brain changes in patients with Alström syndrome likely reflect the coexistence of diffuse primary myelin derangement, anterograde trans-synaptic degeneration, and complex cortical reorganization affecting the anterior and posterior visual cortex to different degrees.

Original languageEnglish
Pages (from-to)160-165
Number of pages6
JournalAmerican Journal of Neuroradiology
Volume36
Issue number1
DOIs
Publication statusPublished - Jan 1 2015

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Seeds
Retrograde Degeneration
Occipital Lobe
Diffusion Tensor Imaging
Anisotropy
Visual Cortex
Blindness
Myelin Sheath
Prefrontal Cortex
Thalamus
Neuroimaging
Brain

ASJC Scopus subject areas

  • Clinical Neurology
  • Radiology Nuclear Medicine and imaging
  • Medicine(all)

Cite this

Manara, R., Citton, V., Maffei, P., Marshall, J. D., Naggert, J. K., Milan, G., ... Favaro, A. (2015). Degeneration and plasticity of the optic pathway in AlströmSyndrome. American Journal of Neuroradiology, 36(1), 160-165. https://doi.org/10.3174/ajnr.A4115

Degeneration and plasticity of the optic pathway in AlströmSyndrome. / Manara, R.; Citton, Valentina; Maffei, P.; Marshall, J. D.; Naggert, J. K.; Milan, G.; Vettor, R.; Baglione, A.; Vitale, A.; Briani, C.; Di Salle, F.; Favaro, A.

In: American Journal of Neuroradiology, Vol. 36, No. 1, 01.01.2015, p. 160-165.

Research output: Contribution to journalArticle

Manara, R, Citton, V, Maffei, P, Marshall, JD, Naggert, JK, Milan, G, Vettor, R, Baglione, A, Vitale, A, Briani, C, Di Salle, F & Favaro, A 2015, 'Degeneration and plasticity of the optic pathway in AlströmSyndrome', American Journal of Neuroradiology, vol. 36, no. 1, pp. 160-165. https://doi.org/10.3174/ajnr.A4115
Manara R, Citton V, Maffei P, Marshall JD, Naggert JK, Milan G et al. Degeneration and plasticity of the optic pathway in AlströmSyndrome. American Journal of Neuroradiology. 2015 Jan 1;36(1):160-165. https://doi.org/10.3174/ajnr.A4115
Manara, R. ; Citton, Valentina ; Maffei, P. ; Marshall, J. D. ; Naggert, J. K. ; Milan, G. ; Vettor, R. ; Baglione, A. ; Vitale, A. ; Briani, C. ; Di Salle, F. ; Favaro, A. / Degeneration and plasticity of the optic pathway in AlströmSyndrome. In: American Journal of Neuroradiology. 2015 ; Vol. 36, No. 1. pp. 160-165.
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abstract = "Background and Purpose: Alstr{\"o}m syndrome is a rare inherited ciliopathy in which early progressive cone-rod dystrophy leads to childhood blindness. We investigated functional and structural changes of the optic pathway in Alstr{\"o}msyndrome by using MR imaging to provide insight into the underlying pathogenic mechanisms. Materials and Methods: Eleven patients with genetically proved Alstr{\"o}m syndrome (mean age, 23 years; range, 6-45 years; 5 females) and 19 age- and sex-matched controls underwent brain MR imaging. The study protocol included conventional sequences, resting-state functional MR imaging, and diffusion tensor imaging. Results: In patients with Alstr{\"o}msyndrome, the evaluation of the occipital regions showed the following: 1) diffuse white matter volume decrease while gray matter volume decrease spared the occipital poles (voxel-based morphometry), 2) diffuse fractional anisotropy decrease and radial diffusivity increase while mean and axial diffusivities were normal (tract-based spatial statistics), and 3) reduced connectivity in the medial visual network strikingly sparing the occipital poles (independent component analysis). After we placed seeds in both occipital poles, the seed-based analysis revealed significantly increased connectivity in patients with Alstr{\"o}msyndrome toward the left frontal operculum, inferior and middle frontal gyri, and the medial portion of both thalami (left seed) and toward the anterior portion of the left insula (right and left seeds). Conclusions: The protean occipital brain changes in patients with Alstr{\"o}m syndrome likely reflect the coexistence of diffuse primary myelin derangement, anterograde trans-synaptic degeneration, and complex cortical reorganization affecting the anterior and posterior visual cortex to different degrees.",
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AU - Milan, G.

AU - Vettor, R.

AU - Baglione, A.

AU - Vitale, A.

AU - Briani, C.

AU - Di Salle, F.

AU - Favaro, A.

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N2 - Background and Purpose: Alström syndrome is a rare inherited ciliopathy in which early progressive cone-rod dystrophy leads to childhood blindness. We investigated functional and structural changes of the optic pathway in Alströmsyndrome by using MR imaging to provide insight into the underlying pathogenic mechanisms. Materials and Methods: Eleven patients with genetically proved Alström syndrome (mean age, 23 years; range, 6-45 years; 5 females) and 19 age- and sex-matched controls underwent brain MR imaging. The study protocol included conventional sequences, resting-state functional MR imaging, and diffusion tensor imaging. Results: In patients with Alströmsyndrome, the evaluation of the occipital regions showed the following: 1) diffuse white matter volume decrease while gray matter volume decrease spared the occipital poles (voxel-based morphometry), 2) diffuse fractional anisotropy decrease and radial diffusivity increase while mean and axial diffusivities were normal (tract-based spatial statistics), and 3) reduced connectivity in the medial visual network strikingly sparing the occipital poles (independent component analysis). After we placed seeds in both occipital poles, the seed-based analysis revealed significantly increased connectivity in patients with Alströmsyndrome toward the left frontal operculum, inferior and middle frontal gyri, and the medial portion of both thalami (left seed) and toward the anterior portion of the left insula (right and left seeds). Conclusions: The protean occipital brain changes in patients with Alström syndrome likely reflect the coexistence of diffuse primary myelin derangement, anterograde trans-synaptic degeneration, and complex cortical reorganization affecting the anterior and posterior visual cortex to different degrees.

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