Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy
Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with PLA2G6 -positive INAD. Brain volumet...
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| Veröffentlicht in: | Cerebellum (London, England) England), 2017-06, Vol.16 (3), p.742-745 |
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| container_title | Cerebellum (London, England) |
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| creator | Mascalchi, Mario Mari, Francesco Berti, Beatrice Bartolini, Emanuele Lenge, Matteo Bianchi, Andrea Antonucci, Laura Santorelli, Filippo M. Garavaglia, Barbara Guerrini, Renzo |
| description | Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with
PLA2G6
-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (
t
0
) and 36 months (
t
1
) in patient 1 and at age 22 (
t
0
) and 31 months (
t
1
) in patient 2. Data at
t
0
were compared to those obtained in 18 control children aged 14–44 months with normal MRI. At
t
0
, both patients showed markedly lower cerebellar volume compared to controls. At
t
1
, both patients exhibited a remarkable decrease of cerebellar volume (−25.8% in patient 1; −16.5% in patient 2) and of frontal (−6.8% in patient 1 and −3.3% in patient 2) and occipital (−9.8% in patient 1 and −9.1% in patient 2) cortical GM volume. Our MRI morphometry study indicates that INAD is characterized by a remarkably fast progression of cerebellar atrophy and mild atrophy of the frontal and occipital cortex presumably secondary to deafferentation in the cortical-pons-cerebellum-rubro-thalamus-cortical circuit and visual pathways. |
| doi_str_mv | 10.1007/s12311-017-0843-z |
| format | Article |
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PLA2G6
-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (
t
0
) and 36 months (
t
1
) in patient 1 and at age 22 (
t
0
) and 31 months (
t
1
) in patient 2. Data at
t
0
were compared to those obtained in 18 control children aged 14–44 months with normal MRI. At
t
0
, both patients showed markedly lower cerebellar volume compared to controls. At
t
1
, both patients exhibited a remarkable decrease of cerebellar volume (−25.8% in patient 1; −16.5% in patient 2) and of frontal (−6.8% in patient 1 and −3.3% in patient 2) and occipital (−9.8% in patient 1 and −9.1% in patient 2) cortical GM volume. Our MRI morphometry study indicates that INAD is characterized by a remarkably fast progression of cerebellar atrophy and mild atrophy of the frontal and occipital cortex presumably secondary to deafferentation in the cortical-pons-cerebellum-rubro-thalamus-cortical circuit and visual pathways.</description><identifier>ISSN: 1473-4222</identifier><identifier>EISSN: 1473-4230</identifier><identifier>DOI: 10.1007/s12311-017-0843-z</identifier><identifier>PMID: 28091863</identifier><language>eng</language><publisher>New York: Springer US</publisher><subject>Atrophy ; Axons - pathology ; Biomedical and Life Sciences ; Biomedicine ; Cerebellar Diseases - pathology ; Cerebellum ; Child, Preschool ; Children ; Cortex (frontal) ; Disease Progression ; Dystrophy ; Female ; Group VI Phospholipases A2 - genetics ; Humans ; INAD protein ; Infant ; Magnetic resonance imaging ; Magnetic Resonance Imaging - methods ; Male ; Morphometry ; Neuroaxonal Dystrophies - diagnosis ; Neuroaxonal Dystrophies - genetics ; Neurobiology ; Neurology ; Neurosciences ; Occipital lobe ; Pons ; Short Report ; Thalamus ; Twins ; Visual cortex ; Visual pathways</subject><ispartof>Cerebellum (London, England), 2017-06, Vol.16 (3), p.742-745</ispartof><rights>Springer Science+Business Media New York 2017</rights><rights>The Cerebellum is a copyright of Springer, 2017.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c372t-b49b28acd4a0619407f848635b5b7c4f78291491ea39f972c2fd9a61c8690a0a3</citedby><cites>FETCH-LOGICAL-c372t-b49b28acd4a0619407f848635b5b7c4f78291491ea39f972c2fd9a61c8690a0a3</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/s12311-017-0843-z$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s12311-017-0843-z$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51297</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/28091863$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Mascalchi, Mario</creatorcontrib><creatorcontrib>Mari, Francesco</creatorcontrib><creatorcontrib>Berti, Beatrice</creatorcontrib><creatorcontrib>Bartolini, Emanuele</creatorcontrib><creatorcontrib>Lenge, Matteo</creatorcontrib><creatorcontrib>Bianchi, Andrea</creatorcontrib><creatorcontrib>Antonucci, Laura</creatorcontrib><creatorcontrib>Santorelli, Filippo M.</creatorcontrib><creatorcontrib>Garavaglia, Barbara</creatorcontrib><creatorcontrib>Guerrini, Renzo</creatorcontrib><title>Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy</title><title>Cerebellum (London, England)</title><addtitle>Cerebellum</addtitle><addtitle>Cerebellum</addtitle><description>Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with
PLA2G6
-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (
t
0
) and 36 months (
t
1
) in patient 1 and at age 22 (
t
0
) and 31 months (
t
1
) in patient 2. Data at
t
0
were compared to those obtained in 18 control children aged 14–44 months with normal MRI. At
t
0
, both patients showed markedly lower cerebellar volume compared to controls. At
t
1
, both patients exhibited a remarkable decrease of cerebellar volume (−25.8% in patient 1; −16.5% in patient 2) and of frontal (−6.8% in patient 1 and −3.3% in patient 2) and occipital (−9.8% in patient 1 and −9.1% in patient 2) cortical GM volume. Our MRI morphometry study indicates that INAD is characterized by a remarkably fast progression of cerebellar atrophy and mild atrophy of the frontal and occipital cortex presumably secondary to deafferentation in the cortical-pons-cerebellum-rubro-thalamus-cortical circuit and visual pathways.</description><subject>Atrophy</subject><subject>Axons - pathology</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cerebellar Diseases - pathology</subject><subject>Cerebellum</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Cortex (frontal)</subject><subject>Disease Progression</subject><subject>Dystrophy</subject><subject>Female</subject><subject>Group VI Phospholipases A2 - genetics</subject><subject>Humans</subject><subject>INAD protein</subject><subject>Infant</subject><subject>Magnetic resonance imaging</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Male</subject><subject>Morphometry</subject><subject>Neuroaxonal Dystrophies - diagnosis</subject><subject>Neuroaxonal Dystrophies - genetics</subject><subject>Neurobiology</subject><subject>Neurology</subject><subject>Neurosciences</subject><subject>Occipital lobe</subject><subject>Pons</subject><subject>Short Report</subject><subject>Thalamus</subject><subject>Twins</subject><subject>Visual cortex</subject><subject>Visual pathways</subject><issn>1473-4222</issn><issn>1473-4230</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2017</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNp1kE1LxDAQhoMorl8_wIsEvHiJZpJs0xzL-rWw6B70HNJuula6zZq04O6vN7UqIniagTzvZOZB6BToJVAqrwIwDkAoSEJTwcl2Bx2AkJwIxunuT8_YCB2G8EopY1TIfTRiKVWQJvwA6VsTWjz3bultCJVrsCvxxHqb27o2Hmetd-uXDa4aPJ9l7C4hWQiuqExrF3jalKZpq9riB9t515gaZ--f5XoThuAx2itNHezJVz1Cz7c3T5N7Mnu8m06yGSm4ZC3JhcpZaoqFMDQBJagsUxEXHOfjXBailClTIBRYw1WpJCtYuVAmgSJNFDXU8CN0Mcxde_fW2dDqVRWK_obGui7oeC2MOUsBInr-B311nY9b95RSshejIgUDVXgXgrelXvtqZfxGA9W9fT3Y19G-7u3rbcycfU3u8pVd_CS-dUeADUCIT83S-l9f_zv1AyWajp8</recordid><startdate>20170601</startdate><enddate>20170601</enddate><creator>Mascalchi, Mario</creator><creator>Mari, Francesco</creator><creator>Berti, Beatrice</creator><creator>Bartolini, Emanuele</creator><creator>Lenge, Matteo</creator><creator>Bianchi, Andrea</creator><creator>Antonucci, Laura</creator><creator>Santorelli, Filippo M.</creator><creator>Garavaglia, Barbara</creator><creator>Guerrini, Renzo</creator><general>Springer US</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>7RV</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20170601</creationdate><title>Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy</title><author>Mascalchi, Mario ; Mari, Francesco ; Berti, Beatrice ; Bartolini, Emanuele ; Lenge, Matteo ; Bianchi, Andrea ; Antonucci, Laura ; Santorelli, Filippo M. ; Garavaglia, Barbara ; Guerrini, Renzo</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c372t-b49b28acd4a0619407f848635b5b7c4f78291491ea39f972c2fd9a61c8690a0a3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2017</creationdate><topic>Atrophy</topic><topic>Axons - pathology</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cerebellar Diseases - pathology</topic><topic>Cerebellum</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Cortex (frontal)</topic><topic>Disease Progression</topic><topic>Dystrophy</topic><topic>Female</topic><topic>Group VI Phospholipases A2 - genetics</topic><topic>Humans</topic><topic>INAD protein</topic><topic>Infant</topic><topic>Magnetic resonance imaging</topic><topic>Magnetic Resonance Imaging - methods</topic><topic>Male</topic><topic>Morphometry</topic><topic>Neuroaxonal Dystrophies - diagnosis</topic><topic>Neuroaxonal Dystrophies - genetics</topic><topic>Neurobiology</topic><topic>Neurology</topic><topic>Neurosciences</topic><topic>Occipital lobe</topic><topic>Pons</topic><topic>Short Report</topic><topic>Thalamus</topic><topic>Twins</topic><topic>Visual cortex</topic><topic>Visual pathways</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Mascalchi, Mario</creatorcontrib><creatorcontrib>Mari, Francesco</creatorcontrib><creatorcontrib>Berti, Beatrice</creatorcontrib><creatorcontrib>Bartolini, Emanuele</creatorcontrib><creatorcontrib>Lenge, Matteo</creatorcontrib><creatorcontrib>Bianchi, Andrea</creatorcontrib><creatorcontrib>Antonucci, Laura</creatorcontrib><creatorcontrib>Santorelli, Filippo M.</creatorcontrib><creatorcontrib>Garavaglia, Barbara</creatorcontrib><creatorcontrib>Guerrini, Renzo</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>Nursing & Allied Health Database</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>Psychology Database (Alumni)</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 Essentials</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Database (Alumni Edition)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest Psychology</collection><collection>Nursing & Allied Health Premium</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>ProQuest One Psychology</collection><collection>ProQuest Central Basic</collection><collection>MEDLINE - Academic</collection><jtitle>Cerebellum (London, England)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Mascalchi, Mario</au><au>Mari, Francesco</au><au>Berti, Beatrice</au><au>Bartolini, Emanuele</au><au>Lenge, Matteo</au><au>Bianchi, Andrea</au><au>Antonucci, Laura</au><au>Santorelli, Filippo M.</au><au>Garavaglia, Barbara</au><au>Guerrini, Renzo</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy</atitle><jtitle>Cerebellum (London, England)</jtitle><stitle>Cerebellum</stitle><addtitle>Cerebellum</addtitle><date>2017-06-01</date><risdate>2017</risdate><volume>16</volume><issue>3</issue><spage>742</spage><epage>745</epage><pages>742-745</pages><issn>1473-4222</issn><eissn>1473-4230</eissn><abstract>Infantile neuronal axonal dystrophy (INAD) is characterized by progressive cerebellar atrophy. MRI has been recommended as a marker of disease progression in cerebellar diseases. We performed a longitudinal brain volumetry study in a couple of bicorial twins with
PLA2G6
-positive INAD. Brain volumetry was calculated with FreeSurfer software on 3T T1-weighted images acquired at age 28 (
t
0
) and 36 months (
t
1
) in patient 1 and at age 22 (
t
0
) and 31 months (
t
1
) in patient 2. Data at
t
0
were compared to those obtained in 18 control children aged 14–44 months with normal MRI. At
t
0
, both patients showed markedly lower cerebellar volume compared to controls. At
t
1
, both patients exhibited a remarkable decrease of cerebellar volume (−25.8% in patient 1; −16.5% in patient 2) and of frontal (−6.8% in patient 1 and −3.3% in patient 2) and occipital (−9.8% in patient 1 and −9.1% in patient 2) cortical GM volume. Our MRI morphometry study indicates that INAD is characterized by a remarkably fast progression of cerebellar atrophy and mild atrophy of the frontal and occipital cortex presumably secondary to deafferentation in the cortical-pons-cerebellum-rubro-thalamus-cortical circuit and visual pathways.</abstract><cop>New York</cop><pub>Springer US</pub><pmid>28091863</pmid><doi>10.1007/s12311-017-0843-z</doi><tpages>4</tpages></addata></record> |
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| ispartof | Cerebellum (London, England), 2017-06, Vol.16 (3), p.742-745 |
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| subjects | Atrophy Axons - pathology Biomedical and Life Sciences Biomedicine Cerebellar Diseases - pathology Cerebellum Child, Preschool Children Cortex (frontal) Disease Progression Dystrophy Female Group VI Phospholipases A2 - genetics Humans INAD protein Infant Magnetic resonance imaging Magnetic Resonance Imaging - methods Male Morphometry Neuroaxonal Dystrophies - diagnosis Neuroaxonal Dystrophies - genetics Neurobiology Neurology Neurosciences Occipital lobe Pons Short Report Thalamus Twins Visual cortex Visual pathways |
| title | Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy |
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