Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations
Using advanced MRI techniques, we investigated the presence and topographical distribution of brain grey matter (GM) and white matter (WM) alterations in dominant optic atrophy (DOA) patients with genetically proven OPA1 mutation as well as their correlation with clinical and neuro-ophthalmologic fi...
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| Veröffentlicht in: | Journal of neurology 2015-05, Vol.262 (5), p.1216-1227 |
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| creator | Rocca, Maria A. Bianchi-Marzoli, Stefania Messina, Roberta Cascavilla, Maria Lucia Zeviani, Massimo Lamperti, Costanza Milesi, Jacopo Carta, Arturo Cammarata, Gabriella Leocani, Letizia Lamantea, Eleonora Bandello, Francesco Comi, Giancarlo Falini, Andrea Filippi, Massimo |
| description | Using advanced MRI techniques, we investigated the presence and topographical distribution of brain grey matter (GM) and white matter (WM) alterations in dominant optic atrophy (DOA) patients with genetically proven
OPA1
mutation as well as their correlation with clinical and neuro-ophthalmologic findings. Nineteen DOA patients underwent neurological, neuro-ophthalmologic and brainstem auditory evoked potentials (BAEP) evaluations. Voxel-wise methods were applied to assess regional GM and WM abnormalities in patients compared to 20 healthy controls. Visual acuity was reduced in 16 patients. Six DOA patients (4 with missense mutations) had an abnormal I peripheral component (auditory nerve) at BAEP. Compared to controls, DOA patients had significant atrophy of the optic nerves (
p
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| doi_str_mv | 10.1007/s00415-015-7696-5 |
| format | Article |
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OPA1
mutation as well as their correlation with clinical and neuro-ophthalmologic findings. Nineteen DOA patients underwent neurological, neuro-ophthalmologic and brainstem auditory evoked potentials (BAEP) evaluations. Voxel-wise methods were applied to assess regional GM and WM abnormalities in patients compared to 20 healthy controls. Visual acuity was reduced in 16 patients. Six DOA patients (4 with missense mutations) had an abnormal I peripheral component (auditory nerve) at BAEP. Compared to controls, DOA patients had significant atrophy of the optic nerves (
p
< 0.0001). Voxel-based morphometry (VBM) analysis showed that, compared to controls, DOA patients had significant WM atrophy of the chiasm and optic tracts; whereas no areas of GM atrophy were found. Tract-based spatial statistics (TBSS) analysis showed that compared to controls, DOA patients had significantly lower mean diffusivity, axial and radial diffusivity in the WM of the cerebellum, brainstem, thalamus, fronto-occipital-temporal lobes, including the cingulum, corpus callosum, corticospinal tract and optic radiation bilaterally. No abnormalities of fractional anisotropy were detected. No correlations were found between volumetric and diffusivity abnormalities quantified with MRI and clinical and neuro-ophthalmologic measures of disease severity. Consistently with pathological studies, tissue loss in DOA patients is limited to anterior optic pathways reflecting retinal ganglion cell degeneration. Distributed abnormalities of diffusivity indexes might reflect abnormal intracellular mitochondrial morphology as well as alteration of protein levels due to
OPA1
mutations.</description><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s00415-015-7696-5</identifier><identifier>PMID: 25794858</identifier><language>eng</language><publisher>Berlin/Heidelberg: Springer Berlin Heidelberg</publisher><subject>Adult ; Anisotropy ; Atrophy ; Diagnostic Techniques, Ophthalmological ; Diffusion Magnetic Resonance Imaging ; Electroencephalography ; Evoked Potentials, Auditory - genetics ; Evoked Potentials, Auditory - physiology ; Female ; GTP Phosphohydrolases - genetics ; Humans ; Magnetic resonance imaging ; Male ; Medicine ; Medicine & Public Health ; Middle Aged ; Mitochondrial DNA ; Mutation ; Mutation - genetics ; Neurologic Examination ; Neurology ; Neuroradiology ; Neurosciences ; Ophthalmology ; Optic Atrophy, Autosomal Dominant - genetics ; Optic Atrophy, Autosomal Dominant - pathology ; Optic nerve ; Original Communication ; Proteins ; Statistics, Nonparametric ; White Matter - pathology ; Young Adult</subject><ispartof>Journal of neurology, 2015-05, Vol.262 (5), p.1216-1227</ispartof><rights>Springer-Verlag Berlin Heidelberg 2015</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c475t-a83a82c2f0e904e1f5587e44834b546c75c971308203bd2ddea260e1dfcc6b663</citedby><cites>FETCH-LOGICAL-c475t-a83a82c2f0e904e1f5587e44834b546c75c971308203bd2ddea260e1dfcc6b663</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/s00415-015-7696-5$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s00415-015-7696-5$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,777,781,27905,27906,41469,42538,51300</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/25794858$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Rocca, Maria A.</creatorcontrib><creatorcontrib>Bianchi-Marzoli, Stefania</creatorcontrib><creatorcontrib>Messina, Roberta</creatorcontrib><creatorcontrib>Cascavilla, Maria Lucia</creatorcontrib><creatorcontrib>Zeviani, Massimo</creatorcontrib><creatorcontrib>Lamperti, Costanza</creatorcontrib><creatorcontrib>Milesi, Jacopo</creatorcontrib><creatorcontrib>Carta, Arturo</creatorcontrib><creatorcontrib>Cammarata, Gabriella</creatorcontrib><creatorcontrib>Leocani, Letizia</creatorcontrib><creatorcontrib>Lamantea, Eleonora</creatorcontrib><creatorcontrib>Bandello, Francesco</creatorcontrib><creatorcontrib>Comi, Giancarlo</creatorcontrib><creatorcontrib>Falini, Andrea</creatorcontrib><creatorcontrib>Filippi, Massimo</creatorcontrib><title>Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><addtitle>J Neurol</addtitle><description>Using advanced MRI techniques, we investigated the presence and topographical distribution of brain grey matter (GM) and white matter (WM) alterations in dominant optic atrophy (DOA) patients with genetically proven
OPA1
mutation as well as their correlation with clinical and neuro-ophthalmologic findings. Nineteen DOA patients underwent neurological, neuro-ophthalmologic and brainstem auditory evoked potentials (BAEP) evaluations. Voxel-wise methods were applied to assess regional GM and WM abnormalities in patients compared to 20 healthy controls. Visual acuity was reduced in 16 patients. Six DOA patients (4 with missense mutations) had an abnormal I peripheral component (auditory nerve) at BAEP. Compared to controls, DOA patients had significant atrophy of the optic nerves (
p
< 0.0001). Voxel-based morphometry (VBM) analysis showed that, compared to controls, DOA patients had significant WM atrophy of the chiasm and optic tracts; whereas no areas of GM atrophy were found. Tract-based spatial statistics (TBSS) analysis showed that compared to controls, DOA patients had significantly lower mean diffusivity, axial and radial diffusivity in the WM of the cerebellum, brainstem, thalamus, fronto-occipital-temporal lobes, including the cingulum, corpus callosum, corticospinal tract and optic radiation bilaterally. No abnormalities of fractional anisotropy were detected. No correlations were found between volumetric and diffusivity abnormalities quantified with MRI and clinical and neuro-ophthalmologic measures of disease severity. Consistently with pathological studies, tissue loss in DOA patients is limited to anterior optic pathways reflecting retinal ganglion cell degeneration. Distributed abnormalities of diffusivity indexes might reflect abnormal intracellular mitochondrial morphology as well as alteration of protein levels due to
OPA1
mutations.</description><subject>Adult</subject><subject>Anisotropy</subject><subject>Atrophy</subject><subject>Diagnostic Techniques, Ophthalmological</subject><subject>Diffusion Magnetic Resonance Imaging</subject><subject>Electroencephalography</subject><subject>Evoked Potentials, Auditory - genetics</subject><subject>Evoked Potentials, Auditory - physiology</subject><subject>Female</subject><subject>GTP Phosphohydrolases - genetics</subject><subject>Humans</subject><subject>Magnetic resonance imaging</subject><subject>Male</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Middle Aged</subject><subject>Mitochondrial DNA</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Neurologic Examination</subject><subject>Neurology</subject><subject>Neuroradiology</subject><subject>Neurosciences</subject><subject>Ophthalmology</subject><subject>Optic Atrophy, Autosomal Dominant - genetics</subject><subject>Optic Atrophy, Autosomal Dominant - pathology</subject><subject>Optic nerve</subject><subject>Original Communication</subject><subject>Proteins</subject><subject>Statistics, Nonparametric</subject><subject>White Matter - pathology</subject><subject>Young Adult</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkU1rHSEUhqUkNDdpf0A3Rcimm0mPX6OzDEnzAYFk0a7FcZxewx2dqMMl_z5eblJKIXQhIu9zXtEHoS8EzgiA_J4BOBEN1CXbrm3EB7QinNGGcNEdoBUwDo1ggh-h45wfAUDV4CM6okJ2XAm1QttLn0vy_VLcgE0fYprMxhfvMo4j7pPxAW_Xvjg8mVJcwibZ3dGWJTlcw9lUOJSMt76s8RAnH0woOM7FW2xKivP6GZsw4PuHc4KnpVQ-hvwJHY5mk93n1_0E_br68fPiprm7v769OL9rLJeiNEYxo6ilI7gOuCOjEEo6zhXjveCtlcJ2kjBQFFg_0GFwhrbgyDBa2_Zty07Qt33vnOLT4nLRk8_WbTYmuLhkTSQQLpUi3f_RVjGQQjBW0dN_0Me4pFAfsqPq71aUVorsKZtizsmNek5-MulZE9A7gXovUFeBeidQizrz9bV56Sc3_Jl4M1YBugdyjcJvl_66-t3WFzjhpn8</recordid><startdate>20150501</startdate><enddate>20150501</enddate><creator>Rocca, Maria A.</creator><creator>Bianchi-Marzoli, Stefania</creator><creator>Messina, Roberta</creator><creator>Cascavilla, Maria Lucia</creator><creator>Zeviani, Massimo</creator><creator>Lamperti, Costanza</creator><creator>Milesi, Jacopo</creator><creator>Carta, Arturo</creator><creator>Cammarata, Gabriella</creator><creator>Leocani, Letizia</creator><creator>Lamantea, Eleonora</creator><creator>Bandello, Francesco</creator><creator>Comi, Giancarlo</creator><creator>Falini, Andrea</creator><creator>Filippi, Massimo</creator><general>Springer Berlin Heidelberg</general><general>Springer Nature B.V</general><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>20150501</creationdate><title>Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations</title><author>Rocca, Maria A. ; Bianchi-Marzoli, Stefania ; Messina, Roberta ; Cascavilla, Maria Lucia ; Zeviani, Massimo ; Lamperti, Costanza ; Milesi, Jacopo ; Carta, Arturo ; Cammarata, Gabriella ; Leocani, Letizia ; Lamantea, Eleonora ; Bandello, Francesco ; Comi, Giancarlo ; Falini, Andrea ; Filippi, Massimo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c475t-a83a82c2f0e904e1f5587e44834b546c75c971308203bd2ddea260e1dfcc6b663</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Anisotropy</topic><topic>Atrophy</topic><topic>Diagnostic Techniques, Ophthalmological</topic><topic>Diffusion Magnetic Resonance Imaging</topic><topic>Electroencephalography</topic><topic>Evoked Potentials, Auditory - genetics</topic><topic>Evoked Potentials, Auditory - physiology</topic><topic>Female</topic><topic>GTP Phosphohydrolases - genetics</topic><topic>Humans</topic><topic>Magnetic resonance imaging</topic><topic>Male</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Middle Aged</topic><topic>Mitochondrial DNA</topic><topic>Mutation</topic><topic>Mutation - genetics</topic><topic>Neurologic Examination</topic><topic>Neurology</topic><topic>Neuroradiology</topic><topic>Neurosciences</topic><topic>Ophthalmology</topic><topic>Optic Atrophy, Autosomal Dominant - genetics</topic><topic>Optic Atrophy, Autosomal Dominant - pathology</topic><topic>Optic nerve</topic><topic>Original Communication</topic><topic>Proteins</topic><topic>Statistics, Nonparametric</topic><topic>White Matter - pathology</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Rocca, Maria A.</creatorcontrib><creatorcontrib>Bianchi-Marzoli, Stefania</creatorcontrib><creatorcontrib>Messina, Roberta</creatorcontrib><creatorcontrib>Cascavilla, Maria Lucia</creatorcontrib><creatorcontrib>Zeviani, Massimo</creatorcontrib><creatorcontrib>Lamperti, Costanza</creatorcontrib><creatorcontrib>Milesi, Jacopo</creatorcontrib><creatorcontrib>Carta, Arturo</creatorcontrib><creatorcontrib>Cammarata, Gabriella</creatorcontrib><creatorcontrib>Leocani, Letizia</creatorcontrib><creatorcontrib>Lamantea, Eleonora</creatorcontrib><creatorcontrib>Bandello, Francesco</creatorcontrib><creatorcontrib>Comi, Giancarlo</creatorcontrib><creatorcontrib>Falini, Andrea</creatorcontrib><creatorcontrib>Filippi, Massimo</creatorcontrib><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>Rocca, Maria A.</au><au>Bianchi-Marzoli, Stefania</au><au>Messina, Roberta</au><au>Cascavilla, Maria Lucia</au><au>Zeviani, Massimo</au><au>Lamperti, Costanza</au><au>Milesi, Jacopo</au><au>Carta, Arturo</au><au>Cammarata, Gabriella</au><au>Leocani, Letizia</au><au>Lamantea, Eleonora</au><au>Bandello, Francesco</au><au>Comi, Giancarlo</au><au>Falini, Andrea</au><au>Filippi, Massimo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations</atitle><jtitle>Journal of neurology</jtitle><stitle>J Neurol</stitle><addtitle>J Neurol</addtitle><date>2015-05-01</date><risdate>2015</risdate><volume>262</volume><issue>5</issue><spage>1216</spage><epage>1227</epage><pages>1216-1227</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><abstract>Using advanced MRI techniques, we investigated the presence and topographical distribution of brain grey matter (GM) and white matter (WM) alterations in dominant optic atrophy (DOA) patients with genetically proven
OPA1
mutation as well as their correlation with clinical and neuro-ophthalmologic findings. Nineteen DOA patients underwent neurological, neuro-ophthalmologic and brainstem auditory evoked potentials (BAEP) evaluations. Voxel-wise methods were applied to assess regional GM and WM abnormalities in patients compared to 20 healthy controls. Visual acuity was reduced in 16 patients. Six DOA patients (4 with missense mutations) had an abnormal I peripheral component (auditory nerve) at BAEP. Compared to controls, DOA patients had significant atrophy of the optic nerves (
p
< 0.0001). Voxel-based morphometry (VBM) analysis showed that, compared to controls, DOA patients had significant WM atrophy of the chiasm and optic tracts; whereas no areas of GM atrophy were found. Tract-based spatial statistics (TBSS) analysis showed that compared to controls, DOA patients had significantly lower mean diffusivity, axial and radial diffusivity in the WM of the cerebellum, brainstem, thalamus, fronto-occipital-temporal lobes, including the cingulum, corpus callosum, corticospinal tract and optic radiation bilaterally. No abnormalities of fractional anisotropy were detected. No correlations were found between volumetric and diffusivity abnormalities quantified with MRI and clinical and neuro-ophthalmologic measures of disease severity. Consistently with pathological studies, tissue loss in DOA patients is limited to anterior optic pathways reflecting retinal ganglion cell degeneration. Distributed abnormalities of diffusivity indexes might reflect abnormal intracellular mitochondrial morphology as well as alteration of protein levels due to
OPA1
mutations.</abstract><cop>Berlin/Heidelberg</cop><pub>Springer Berlin Heidelberg</pub><pmid>25794858</pmid><doi>10.1007/s00415-015-7696-5</doi><tpages>12</tpages></addata></record> |
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| subjects | Adult Anisotropy Atrophy Diagnostic Techniques, Ophthalmological Diffusion Magnetic Resonance Imaging Electroencephalography Evoked Potentials, Auditory - genetics Evoked Potentials, Auditory - physiology Female GTP Phosphohydrolases - genetics Humans Magnetic resonance imaging Male Medicine Medicine & Public Health Middle Aged Mitochondrial DNA Mutation Mutation - genetics Neurologic Examination Neurology Neuroradiology Neurosciences Ophthalmology Optic Atrophy, Autosomal Dominant - genetics Optic Atrophy, Autosomal Dominant - pathology Optic nerve Original Communication Proteins Statistics, Nonparametric White Matter - pathology Young Adult |
| title | Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations |
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