Patterns of white matter diffusivity abnormalities in Leber's hereditary optic neuropathy: A tract-based spatial statistics study

Jacopo Milesi, Maria A. Rocca, Stefania Bianchi-Marzoli, Melissa Petrolini, Elisabetta Pagani, Andrea Falini, Giancarlo Comi, Massimo Filippi

Research output: Contribution to journalArticle

15 Citations (Scopus)

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by retinal ganglion cell degeneration and optic nerve atrophy, leading to a loss of central vision. The aim of this study was to explore the topographical pattern of damage to the brain white matter (WM) tracts from patients with chronic LHON using diffusion tensor (DT) MRI and tract-based spatial statistics (TBSS). Brain dual-echo and DT MRI scans were acquired from 13 patients with chronic LHON and 25 matched controls using a 3.0 T scanner. TBSS analysis was performed using the FMRIB's Diffusion Toolbox. A complete neuro-ophthalmologic examination, including standardized automated Humphrey perimetry as well as average and temporal peripapillary retinal nerve fiber layer thickness (PRNFL) measurements, was obtained in all patients. Mean average and temporal PRNFL thicknesses were decreased significantly in LHON patients. Compared to controls, TBSS analysis revealed significant diffusivity abnormalities in these patients, which were characterized by a decreased fractional anisotropy (FA) and an increased mean diffusivity and radial diffusivity, affecting exclusively the optic tracts and optic radiations (OR). In patients, a significant correlation was found between optic tract average FA and mean visual acuity (r = 0.57, p = 0.04). In LHON patients, DT MRI reveals a microstructural alteration of the WM along the entire visual pathways, with a sparing of the other main WM tracts of the brain. Damage to the OR may be secondary either to trans-synaptic degeneration, which in turn is due to neuroaxonal loss in the retina and optic nerve, or to local mitochondrial dysfunction.

Original languageEnglish
Pages (from-to)1801-1807
Number of pages7
JournalJournal of Neurology
Volume259
Issue number9
DOIs
Publication statusPublished - Sep 2012

Fingerprint

Leber's Hereditary Optic Atrophy
Diffusion Magnetic Resonance Imaging
Spatial Analysis
Anisotropy
Optic Nerve
Nerve Fibers
Brain
Retrograde Degeneration
Radiation
Optic Atrophy
Mitochondrial Diseases
Visual Field Tests
Visual Pathways
Retinal Ganglion Cells
White Matter
Visual Acuity
Retina
Magnetic Resonance Imaging

Keywords

  • Diffusion tensor MRI
  • Leber hereditary optic neuropathy
  • Optic coherence tomography
  • Optic radiation
  • Tract-based spatial statistics

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

@article{96209fa37ee64cb2b554129e2032e9b0,
title = "Patterns of white matter diffusivity abnormalities in Leber's hereditary optic neuropathy: A tract-based spatial statistics study",
abstract = "Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by retinal ganglion cell degeneration and optic nerve atrophy, leading to a loss of central vision. The aim of this study was to explore the topographical pattern of damage to the brain white matter (WM) tracts from patients with chronic LHON using diffusion tensor (DT) MRI and tract-based spatial statistics (TBSS). Brain dual-echo and DT MRI scans were acquired from 13 patients with chronic LHON and 25 matched controls using a 3.0 T scanner. TBSS analysis was performed using the FMRIB's Diffusion Toolbox. A complete neuro-ophthalmologic examination, including standardized automated Humphrey perimetry as well as average and temporal peripapillary retinal nerve fiber layer thickness (PRNFL) measurements, was obtained in all patients. Mean average and temporal PRNFL thicknesses were decreased significantly in LHON patients. Compared to controls, TBSS analysis revealed significant diffusivity abnormalities in these patients, which were characterized by a decreased fractional anisotropy (FA) and an increased mean diffusivity and radial diffusivity, affecting exclusively the optic tracts and optic radiations (OR). In patients, a significant correlation was found between optic tract average FA and mean visual acuity (r = 0.57, p = 0.04). In LHON patients, DT MRI reveals a microstructural alteration of the WM along the entire visual pathways, with a sparing of the other main WM tracts of the brain. Damage to the OR may be secondary either to trans-synaptic degeneration, which in turn is due to neuroaxonal loss in the retina and optic nerve, or to local mitochondrial dysfunction.",
keywords = "Diffusion tensor MRI, Leber hereditary optic neuropathy, Optic coherence tomography, Optic radiation, Tract-based spatial statistics",
author = "Jacopo Milesi and Rocca, {Maria A.} and Stefania Bianchi-Marzoli and Melissa Petrolini and Elisabetta Pagani and Andrea Falini and Giancarlo Comi and Massimo Filippi",
year = "2012",
month = "9",
doi = "10.1007/s00415-011-6406-1",
language = "English",
volume = "259",
pages = "1801--1807",
journal = "Journal of Neurology",
issn = "0340-5354",
publisher = "Dr. Dietrich Steinkopff Verlag GmbH and Co. KG",
number = "9",

}

TY - JOUR

T1 - Patterns of white matter diffusivity abnormalities in Leber's hereditary optic neuropathy

T2 - A tract-based spatial statistics study

AU - Milesi, Jacopo

AU - Rocca, Maria A.

AU - Bianchi-Marzoli, Stefania

AU - Petrolini, Melissa

AU - Pagani, Elisabetta

AU - Falini, Andrea

AU - Comi, Giancarlo

AU - Filippi, Massimo

PY - 2012/9

Y1 - 2012/9

N2 - Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by retinal ganglion cell degeneration and optic nerve atrophy, leading to a loss of central vision. The aim of this study was to explore the topographical pattern of damage to the brain white matter (WM) tracts from patients with chronic LHON using diffusion tensor (DT) MRI and tract-based spatial statistics (TBSS). Brain dual-echo and DT MRI scans were acquired from 13 patients with chronic LHON and 25 matched controls using a 3.0 T scanner. TBSS analysis was performed using the FMRIB's Diffusion Toolbox. A complete neuro-ophthalmologic examination, including standardized automated Humphrey perimetry as well as average and temporal peripapillary retinal nerve fiber layer thickness (PRNFL) measurements, was obtained in all patients. Mean average and temporal PRNFL thicknesses were decreased significantly in LHON patients. Compared to controls, TBSS analysis revealed significant diffusivity abnormalities in these patients, which were characterized by a decreased fractional anisotropy (FA) and an increased mean diffusivity and radial diffusivity, affecting exclusively the optic tracts and optic radiations (OR). In patients, a significant correlation was found between optic tract average FA and mean visual acuity (r = 0.57, p = 0.04). In LHON patients, DT MRI reveals a microstructural alteration of the WM along the entire visual pathways, with a sparing of the other main WM tracts of the brain. Damage to the OR may be secondary either to trans-synaptic degeneration, which in turn is due to neuroaxonal loss in the retina and optic nerve, or to local mitochondrial dysfunction.

AB - Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease characterized by retinal ganglion cell degeneration and optic nerve atrophy, leading to a loss of central vision. The aim of this study was to explore the topographical pattern of damage to the brain white matter (WM) tracts from patients with chronic LHON using diffusion tensor (DT) MRI and tract-based spatial statistics (TBSS). Brain dual-echo and DT MRI scans were acquired from 13 patients with chronic LHON and 25 matched controls using a 3.0 T scanner. TBSS analysis was performed using the FMRIB's Diffusion Toolbox. A complete neuro-ophthalmologic examination, including standardized automated Humphrey perimetry as well as average and temporal peripapillary retinal nerve fiber layer thickness (PRNFL) measurements, was obtained in all patients. Mean average and temporal PRNFL thicknesses were decreased significantly in LHON patients. Compared to controls, TBSS analysis revealed significant diffusivity abnormalities in these patients, which were characterized by a decreased fractional anisotropy (FA) and an increased mean diffusivity and radial diffusivity, affecting exclusively the optic tracts and optic radiations (OR). In patients, a significant correlation was found between optic tract average FA and mean visual acuity (r = 0.57, p = 0.04). In LHON patients, DT MRI reveals a microstructural alteration of the WM along the entire visual pathways, with a sparing of the other main WM tracts of the brain. Damage to the OR may be secondary either to trans-synaptic degeneration, which in turn is due to neuroaxonal loss in the retina and optic nerve, or to local mitochondrial dysfunction.

KW - Diffusion tensor MRI

KW - Leber hereditary optic neuropathy

KW - Optic coherence tomography

KW - Optic radiation

KW - Tract-based spatial statistics

UR - http://www.scopus.com/inward/record.url?scp=84867332792&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84867332792&partnerID=8YFLogxK

U2 - 10.1007/s00415-011-6406-1

DO - 10.1007/s00415-011-6406-1

M3 - Article

C2 - 22249289

AN - SCOPUS:84867332792

VL - 259

SP - 1801

EP - 1807

JO - Journal of Neurology

JF - Journal of Neurology

SN - 0340-5354

IS - 9

ER -