Patterns of white matter diffusivity abnormalities in Leber’s hereditary optic neuropathy: a tract-based spatial statistics study
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...
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| Veröffentlicht in: | Journal of neurology 2012-09, Vol.259 (9), p.1801-1807 |
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| creator | Milesi, Jacopo Rocca, Maria A. Bianchi-Marzoli, Stefania Petrolini, Melissa Pagani, Elisabetta Falini, Andrea Comi, Giancarlo Filippi, Massimo |
| description | 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. |
| doi_str_mv | 10.1007/s00415-011-6406-1 |
| format | Article |
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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.</description><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s00415-011-6406-1</identifier><identifier>PMID: 22249289</identifier><identifier>CODEN: JNRYA9</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer-Verlag</publisher><subject>Acuity ; Adult ; Anisotropy ; Atrophy ; Biological and medical sciences ; Brain - pathology ; Case-Control Studies ; Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction ; Diagnostic Techniques, Neurological ; Diagnostic Techniques, Ophthalmological ; Diffusion Magnetic Resonance Imaging ; Disease ; Female ; Humans ; Image Processing, Computer-Assisted ; Magnetic resonance imaging ; Male ; Medical sciences ; Medicine ; Medicine & Public Health ; Middle Aged ; Mitochondrial DNA ; Mutation ; Nerve Fibers, Myelinated - pathology ; Nervous system (semeiology, syndromes) ; Neurology ; Neuroradiology ; Neurosciences ; Ophthalmology ; Optic Atrophy, Hereditary, Leber - pathology ; Optic nerve ; Original Communication ; Statistics as Topic ; Tomography ; Tomography, Optical Coherence - methods ; Topography ; Visual Fields - physiology ; Young Adult</subject><ispartof>Journal of neurology, 2012-09, Vol.259 (9), p.1801-1807</ispartof><rights>Springer-Verlag 2012</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c501t-b92bc0ede37269c921960e172dc34efb1c2fbaa80d3ec1beadc6e76f87fe30583</citedby><cites>FETCH-LOGICAL-c501t-b92bc0ede37269c921960e172dc34efb1c2fbaa80d3ec1beadc6e76f87fe30583</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s00415-011-6406-1$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00415-011-6406-1$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=26332495$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/22249289$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Milesi, Jacopo</creatorcontrib><creatorcontrib>Rocca, Maria A.</creatorcontrib><creatorcontrib>Bianchi-Marzoli, Stefania</creatorcontrib><creatorcontrib>Petrolini, Melissa</creatorcontrib><creatorcontrib>Pagani, Elisabetta</creatorcontrib><creatorcontrib>Falini, Andrea</creatorcontrib><creatorcontrib>Comi, Giancarlo</creatorcontrib><creatorcontrib>Filippi, Massimo</creatorcontrib><title>Patterns of white matter diffusivity abnormalities in Leber’s hereditary optic neuropathy: a tract-based spatial statistics study</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><addtitle>J Neurol</addtitle><description>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.</description><subject>Acuity</subject><subject>Adult</subject><subject>Anisotropy</subject><subject>Atrophy</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Case-Control Studies</subject><subject>Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction</subject><subject>Diagnostic Techniques, Neurological</subject><subject>Diagnostic Techniques, Ophthalmological</subject><subject>Diffusion Magnetic Resonance Imaging</subject><subject>Disease</subject><subject>Female</subject><subject>Humans</subject><subject>Image Processing, Computer-Assisted</subject><subject>Magnetic resonance imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mitochondrial DNA</subject><subject>Mutation</subject><subject>Nerve Fibers, Myelinated - pathology</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Ophthalmology</subject><subject>Optic Atrophy, Hereditary, Leber - pathology</subject><subject>Optic nerve</subject><subject>Original Communication</subject><subject>Statistics as Topic</subject><subject>Tomography</subject><subject>Tomography, Optical Coherence - methods</subject><subject>Topography</subject><subject>Visual Fields - physiology</subject><subject>Young Adult</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2012</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqNkcuqFDEQhoMonvHoA7iRgAhn01pJupNud3LwqDCgC1036XTFyaEvYyqtzE7wKXw9n8S0M14QBFcVqr78dfkZuy_gsQAwTwigFFUBQhS6BF2IG2wjSiULUVbNTbYBVUJRqao8Y3eIrgGgzoXb7ExKWTaybjbsyxubEsaJ-Oz5p11IyMcfGd4H7xcKH0M6cNtNcxztEFJA4mHiW-wwfvv8lfgOI_Yh2Xjg8z4Fxydc4ry3aXd4yi1P0bpUdJaw55SzwQ6cUo6UWcrPpT_cZbe8HQjvneI5e3f1_O3ly2L7-sWry2fbwlUgskgjOwfYozJSN66RotGAwsjeqRJ9J5z0nbU19Aqd6ND2TqPRvjYeFVS1OmcXR919nD8sSKkdAzkcBjvhvFArQDeiqY3W_4GqGrRRpcjow7_Q63mJU15kpYwxlYG1tzhSLs5EEX27j2HMV8tQu5rZHs1ss5ntama7Kj84KS_diP2vHz_dy8CjE2DJ2cFHO7lAvzmtVCarzMkjR7k0vcf454j_6v4deXq6LQ</recordid><startdate>20120901</startdate><enddate>20120901</enddate><creator>Milesi, Jacopo</creator><creator>Rocca, Maria A.</creator><creator>Bianchi-Marzoli, Stefania</creator><creator>Petrolini, Melissa</creator><creator>Pagani, Elisabetta</creator><creator>Falini, Andrea</creator><creator>Comi, Giancarlo</creator><creator>Filippi, Massimo</creator><general>Springer-Verlag</general><general>Springer</general><general>Springer Nature B.V</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>3V.</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope></search><sort><creationdate>20120901</creationdate><title>Patterns of white matter diffusivity abnormalities in Leber’s hereditary optic neuropathy: a tract-based spatial statistics study</title><author>Milesi, Jacopo ; Rocca, Maria A. ; Bianchi-Marzoli, Stefania ; Petrolini, Melissa ; Pagani, Elisabetta ; Falini, Andrea ; Comi, Giancarlo ; Filippi, Massimo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c501t-b92bc0ede37269c921960e172dc34efb1c2fbaa80d3ec1beadc6e76f87fe30583</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2012</creationdate><topic>Acuity</topic><topic>Adult</topic><topic>Anisotropy</topic><topic>Atrophy</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Case-Control Studies</topic><topic>Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction</topic><topic>Diagnostic Techniques, Neurological</topic><topic>Diagnostic Techniques, Ophthalmological</topic><topic>Diffusion Magnetic Resonance Imaging</topic><topic>Disease</topic><topic>Female</topic><topic>Humans</topic><topic>Image Processing, Computer-Assisted</topic><topic>Magnetic resonance imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mitochondrial DNA</topic><topic>Mutation</topic><topic>Nerve Fibers, Myelinated - pathology</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosciences</topic><topic>Ophthalmology</topic><topic>Optic Atrophy, Hereditary, Leber - pathology</topic><topic>Optic nerve</topic><topic>Original Communication</topic><topic>Statistics as Topic</topic><topic>Tomography</topic><topic>Tomography, Optical Coherence - methods</topic><topic>Topography</topic><topic>Visual Fields - physiology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Milesi, Jacopo</creatorcontrib><creatorcontrib>Rocca, Maria A.</creatorcontrib><creatorcontrib>Bianchi-Marzoli, Stefania</creatorcontrib><creatorcontrib>Petrolini, Melissa</creatorcontrib><creatorcontrib>Pagani, Elisabetta</creatorcontrib><creatorcontrib>Falini, Andrea</creatorcontrib><creatorcontrib>Comi, Giancarlo</creatorcontrib><creatorcontrib>Filippi, Massimo</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Milesi, Jacopo</au><au>Rocca, Maria A.</au><au>Bianchi-Marzoli, Stefania</au><au>Petrolini, Melissa</au><au>Pagani, Elisabetta</au><au>Falini, Andrea</au><au>Comi, Giancarlo</au><au>Filippi, Massimo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Patterns of white matter diffusivity abnormalities in Leber’s hereditary optic neuropathy: a tract-based spatial statistics study</atitle><jtitle>Journal of neurology</jtitle><stitle>J Neurol</stitle><addtitle>J Neurol</addtitle><date>2012-09-01</date><risdate>2012</risdate><volume>259</volume><issue>9</issue><spage>1801</spage><epage>1807</epage><pages>1801-1807</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><coden>JNRYA9</coden><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.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer-Verlag</pub><pmid>22249289</pmid><doi>10.1007/s00415-011-6406-1</doi><tpages>7</tpages></addata></record> |
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| subjects | Acuity Adult Anisotropy Atrophy Biological and medical sciences Brain - pathology Case-Control Studies Cranial nerves. Spinal roots. Peripheral nerves. Autonomic nervous system. Gustation. Olfaction Diagnostic Techniques, Neurological Diagnostic Techniques, Ophthalmological Diffusion Magnetic Resonance Imaging Disease Female Humans Image Processing, Computer-Assisted Magnetic resonance imaging Male Medical sciences Medicine Medicine & Public Health Middle Aged Mitochondrial DNA Mutation Nerve Fibers, Myelinated - pathology Nervous system (semeiology, syndromes) Neurology Neuroradiology Neurosciences Ophthalmology Optic Atrophy, Hereditary, Leber - pathology Optic nerve Original Communication Statistics as Topic Tomography Tomography, Optical Coherence - methods Topography Visual Fields - physiology Young Adult |
| title | Patterns of white matter diffusivity abnormalities in Leber’s hereditary optic neuropathy: a tract-based spatial statistics study |
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