Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study
Background:Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal.Purpose:The aim of the study was to describe CNS...
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| Veröffentlicht in: | Journal of neurology, neurosurgery and psychiatry neurosurgery and psychiatry, 2008-11, Vol.79 (11), p.1249-1254 |
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| creator | Buechner, S Moretti, M Burlina, A P Cei, G Manara, R Ricci, R Mignani, R Parini, R Di Vito, R Giordano, G P Simonelli, P Siciliano, G Borsini, W |
| description | Background:Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal.Purpose:The aim of the study was to describe CNS involvement in a group of Italian patients with AFD.Methods:Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94±10.83 years old and 18 women, 52.48±17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT).Results:All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64±13.65 years and 53.68±11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.Conclusions:The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised by early age at onset and abnormal brain MRIs. At present, ERT is widely used; however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore, primary and secondary prophylaxes of cerebrovascular disease are extremely important. |
| doi_str_mv | 10.1136/jnnp.2008.143693 |
| format | Article |
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Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal.Purpose:The aim of the study was to describe CNS involvement in a group of Italian patients with AFD.Methods:Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94±10.83 years old and 18 women, 52.48±17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT).Results:All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64±13.65 years and 53.68±11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.Conclusions:The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised by early age at onset and abnormal brain MRIs. At present, ERT is widely used; however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore, primary and secondary prophylaxes of cerebrovascular disease are extremely important.</description><identifier>ISSN: 0022-3050</identifier><identifier>EISSN: 1468-330X</identifier><identifier>DOI: 10.1136/jnnp.2008.143693</identifier><identifier>PMID: 18535022</identifier><identifier>CODEN: JNNPAU</identifier><language>eng</language><publisher>London: BMJ Publishing Group Ltd</publisher><subject>Adult ; Age of Onset ; Biological and medical sciences ; Brain - pathology ; Central Nervous System - pathology ; Central Nervous System - physiopathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Disease Progression ; Fabry Disease - epidemiology ; Fabry Disease - pathology ; Fabry Disease - physiopathology ; Female ; Humans ; Ischemic Attack, Transient - epidemiology ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Middle Aged ; Neurology ; Retrospective Studies ; Risk Factors ; Severity of Illness Index</subject><ispartof>Journal of neurology, neurosurgery and psychiatry, 2008-11, Vol.79 (11), p.1249-1254</ispartof><rights>2008 BMJ Publishing Group</rights><rights>2008 INIST-CNRS</rights><rights>Copyright: 2008 2008 BMJ Publishing Group</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-b429t-3904c9cd9769a4edb80cecce433f94d515a9586e9e6bba3f102460665a4af8f83</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://jnnp.bmj.com/content/79/11/1249.full.pdf$$EPDF$$P50$$Gbmj$$H</linktopdf><linktohtml>$$Uhttps://jnnp.bmj.com/content/79/11/1249.full$$EHTML$$P50$$Gbmj$$H</linktohtml><link.rule.ids>114,115,314,777,781,3183,23552,27905,27906,77349,77380</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=20758897$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/18535022$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Buechner, S</creatorcontrib><creatorcontrib>Moretti, M</creatorcontrib><creatorcontrib>Burlina, A P</creatorcontrib><creatorcontrib>Cei, G</creatorcontrib><creatorcontrib>Manara, R</creatorcontrib><creatorcontrib>Ricci, R</creatorcontrib><creatorcontrib>Mignani, R</creatorcontrib><creatorcontrib>Parini, R</creatorcontrib><creatorcontrib>Di Vito, R</creatorcontrib><creatorcontrib>Giordano, G P</creatorcontrib><creatorcontrib>Simonelli, P</creatorcontrib><creatorcontrib>Siciliano, G</creatorcontrib><creatorcontrib>Borsini, W</creatorcontrib><title>Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study</title><title>Journal of neurology, neurosurgery and psychiatry</title><addtitle>J Neurol Neurosurg Psychiatry</addtitle><description>Background:Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal.Purpose:The aim of the study was to describe CNS involvement in a group of Italian patients with AFD.Methods:Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94±10.83 years old and 18 women, 52.48±17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT).Results:All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64±13.65 years and 53.68±11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.Conclusions:The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised by early age at onset and abnormal brain MRIs. At present, ERT is widely used; however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore, primary and secondary prophylaxes of cerebrovascular disease are extremely important.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Central Nervous System - pathology</subject><subject>Central Nervous System - physiopathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Disease Progression</subject><subject>Fabry Disease - epidemiology</subject><subject>Fabry Disease - pathology</subject><subject>Fabry Disease - physiopathology</subject><subject>Female</subject><subject>Humans</subject><subject>Ischemic Attack, Transient - epidemiology</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Retrospective Studies</subject><subject>Risk Factors</subject><subject>Severity of Illness Index</subject><issn>0022-3050</issn><issn>1468-330X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2008</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><recordid>eNqFkc-KFDEQxoMo7rh69yQB0Yv0mHT-dOJtaV1dXHVZdPEW0ulqyNidHpPuwbn5Dr6hT2KGHlbwYi4V-H71UVUfQo8pWVPK5MtNCNt1SYhaU86kZnfQinKpCsbI17toRUhZFowIcoIepLQhh6f0fXRClWAiiyvU1RCmaHscIO7GOeG0TxMM2Ifd2O9gyGr-47PQQkxj-P3z17lt4h63PoFN8Apb7HofvMsWNrT4w_UFjjDFMW3BTX4HOE1zu3-I7nW2T_DoWE_Rl_M3n-t3xeWntxf12WXR8FJPBdOEO-1aXUltObSNIg6cA85Yp3krqLBaKAkaZNNY1lFSckmkFJbbTnWKnaLni-82jt9nSJMZfHLQ9zZA3s5ILXUlJM_g03_AzTjHkGcztFJUcMkIyRRZKJcXShE6s41-sHFvKDGHBMwhAXNIwCwJ5JYnR-O5GaD923A8eQaeHQGb8tW6aIPz6ZYrSSWU0lXmioXzOZAft7qN34ysWCXMx5vavOZXV-9v6mtDM_9i4Zth8_8x_wAHvq1A</recordid><startdate>20081101</startdate><enddate>20081101</enddate><creator>Buechner, S</creator><creator>Moretti, M</creator><creator>Burlina, A P</creator><creator>Cei, G</creator><creator>Manara, R</creator><creator>Ricci, R</creator><creator>Mignani, R</creator><creator>Parini, R</creator><creator>Di Vito, R</creator><creator>Giordano, G P</creator><creator>Simonelli, P</creator><creator>Siciliano, G</creator><creator>Borsini, W</creator><general>BMJ Publishing Group Ltd</general><general>BMJ</general><general>BMJ Publishing Group LTD</general><scope>BSCLL</scope><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>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>88G</scope><scope>88I</scope><scope>8AF</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BENPR</scope><scope>BTHHO</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB0</scope><scope>M0S</scope><scope>M1P</scope><scope>M2M</scope><scope>M2P</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>20081101</creationdate><title>Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study</title><author>Buechner, S ; Moretti, M ; Burlina, A P ; Cei, G ; Manara, R ; Ricci, R ; Mignani, R ; Parini, R ; Di Vito, R ; Giordano, G P ; Simonelli, P ; Siciliano, G ; Borsini, W</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-b429t-3904c9cd9769a4edb80cecce433f94d515a9586e9e6bba3f102460665a4af8f83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2008</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>Biological and medical sciences</topic><topic>Brain - pathology</topic><topic>Central Nervous System - pathology</topic><topic>Central Nervous System - physiopathology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Disease Progression</topic><topic>Fabry Disease - epidemiology</topic><topic>Fabry Disease - pathology</topic><topic>Fabry Disease - physiopathology</topic><topic>Female</topic><topic>Humans</topic><topic>Ischemic Attack, Transient - epidemiology</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>Retrospective Studies</topic><topic>Risk Factors</topic><topic>Severity of Illness Index</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Buechner, S</creatorcontrib><creatorcontrib>Moretti, M</creatorcontrib><creatorcontrib>Burlina, A P</creatorcontrib><creatorcontrib>Cei, G</creatorcontrib><creatorcontrib>Manara, R</creatorcontrib><creatorcontrib>Ricci, R</creatorcontrib><creatorcontrib>Mignani, R</creatorcontrib><creatorcontrib>Parini, R</creatorcontrib><creatorcontrib>Di Vito, R</creatorcontrib><creatorcontrib>Giordano, G P</creatorcontrib><creatorcontrib>Simonelli, P</creatorcontrib><creatorcontrib>Siciliano, G</creatorcontrib><creatorcontrib>Borsini, W</creatorcontrib><collection>Istex</collection><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>ProQuest Nursing and Allied Health Journals</collection><collection>Health & Medical Complete (ProQuest Database)</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>Psychology Database (Alumni)</collection><collection>Science Database (Alumni Edition)</collection><collection>STEM Database</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)</collection><collection>ProQuest Central</collection><collection>ProQuest Central Essentials</collection><collection>ProQuest Central</collection><collection>BMJ Journals</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>SciTech Premium Collection (Proquest) (PQ_SDU_P3)</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>ProQuest Science Journals</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>Journal of neurology, neurosurgery and psychiatry</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Buechner, S</au><au>Moretti, M</au><au>Burlina, A P</au><au>Cei, G</au><au>Manara, R</au><au>Ricci, R</au><au>Mignani, R</au><au>Parini, R</au><au>Di Vito, R</au><au>Giordano, G P</au><au>Simonelli, P</au><au>Siciliano, G</au><au>Borsini, W</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study</atitle><jtitle>Journal of neurology, neurosurgery and psychiatry</jtitle><addtitle>J Neurol Neurosurg Psychiatry</addtitle><date>2008-11-01</date><risdate>2008</risdate><volume>79</volume><issue>11</issue><spage>1249</spage><epage>1254</epage><pages>1249-1254</pages><issn>0022-3050</issn><eissn>1468-330X</eissn><coden>JNNPAU</coden><abstract>Background:Anderson–Fabry disease (AFD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-galactosidase A. Central nervous system (CNS) manifestations consist mainly of cerebrovascular events. Brain MRI results are often abnormal.Purpose:The aim of the study was to describe CNS involvement in a group of Italian patients with AFD.Methods:Clinical and brain MRI data of 43 patients with AFD (25 men, 41.94±10.83 years old and 18 women, 52.48±17.50 years old) were analysed retrospectively. 17 male patients and 7 female patients were under treatment with enzyme replacement therapy (ERT).Results:All 43 patients had signs or symptoms of AFD. 16 men (64%) and 13 women (72%) demonstrated CNS involvement, although with varying severity. Overall, 6 men and 5 women had suffered from cerebrovascular accidents with an age at onset of 33.64±13.65 years and 53.68±11.71 years, respectively. Brain MR images were abnormal in 16/25 men and in 13/16 women. During CNS monitoring, some patients receiving ERT (5/17 men and 2/6 women) demonstrated neurological deterioration, especially those who had presented with cerebrovascular disease already before starting ERT.Conclusions:The study demonstrated a high frequency of CNS involvement in homozygous and heterozygous AFD patients, often characterised by early age at onset and abnormal brain MRIs. At present, ERT is widely used; however, potential beneficent effects may be disguised by the progression of irreversible pathology in short-term follow-up. Therefore, primary and secondary prophylaxes of cerebrovascular disease are extremely important.</abstract><cop>London</cop><pub>BMJ Publishing Group Ltd</pub><pmid>18535022</pmid><doi>10.1136/jnnp.2008.143693</doi><tpages>6</tpages></addata></record> |
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| subjects | Adult Age of Onset Biological and medical sciences Brain - pathology Central Nervous System - pathology Central Nervous System - physiopathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Disease Progression Fabry Disease - epidemiology Fabry Disease - pathology Fabry Disease - physiopathology Female Humans Ischemic Attack, Transient - epidemiology Magnetic Resonance Imaging Male Medical sciences Middle Aged Neurology Retrospective Studies Risk Factors Severity of Illness Index |
| title | Central nervous system involvement in Anderson–Fabry disease: a clinical and MRI retrospective study |
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