Neurologic Improvement in a Type 3 Gaucher Disease Patient Treated with Imiglucerase/Miglustat Combination
Purpose: Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of glucocerebrosidase. The neurologic manifestations of GD patients have to date been refractory to any treatment approach. We present a report of a neuronopathic GD patient whose myoclonic epilepsy imp...
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| Veröffentlicht in: | Epilepsia (Copenhagen) 2007-07, Vol.48 (7), p.1406-1408 |
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| container_title | Epilepsia (Copenhagen) |
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| creator | Capablo, Jose L. Franco, Rafael De Cabezón, Alicia Sáenz Alfonso, Pilar Pocovi, Miguel Giraldo, Pilar |
| description | Purpose: Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of glucocerebrosidase. The neurologic manifestations of GD patients have to date been refractory to any treatment approach. We present a report of a neuronopathic GD patient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat.
Methods: In an adult type 3 GD patient who, despite good visceral and analytic response to ERT, developed progressive neurologic deterioration with marked myoclonic epilepsy and dystonia, we added miglustat to the enzyme‐replacement therapy.
Results: After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks), generalized tonic–clonic seizures decreased, speech improved, and the general neurologic clinical picture improved markedly. The EEG showed a reduction in focal and generalized paroxysmal discharges. No significant adverse effects were observed.
Conclusions: Combined imiglucerase and miglustat therapy may be beneficial for some neuronopathic forms of GD. |
| doi_str_mv | 10.1111/j.1528-1167.2007.01074.x |
| format | Article |
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Methods: In an adult type 3 GD patient who, despite good visceral and analytic response to ERT, developed progressive neurologic deterioration with marked myoclonic epilepsy and dystonia, we added miglustat to the enzyme‐replacement therapy.
Results: After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks), generalized tonic–clonic seizures decreased, speech improved, and the general neurologic clinical picture improved markedly. The EEG showed a reduction in focal and generalized paroxysmal discharges. No significant adverse effects were observed.
Conclusions: Combined imiglucerase and miglustat therapy may be beneficial for some neuronopathic forms of GD.</description><identifier>ISSN: 0013-9580</identifier><identifier>EISSN: 1528-1167</identifier><identifier>DOI: 10.1111/j.1528-1167.2007.01074.x</identifier><identifier>PMID: 17433057</identifier><identifier>CODEN: EPILAK</identifier><language>eng</language><publisher>Malden, USA: Blackwell Publishing Inc</publisher><subject>1-Deoxynojirimycin - analogs & derivatives ; 1-Deoxynojirimycin - therapeutic use ; Adult ; Biological and medical sciences ; Combination therapy ; Comorbidity ; Complex syndromes ; Disease Progression ; Drug Administration Schedule ; Drug Therapy, Combination ; Dystonia - drug therapy ; Dystonia - epidemiology ; Electroencephalography - drug effects ; Electroencephalography - statistics & numerical data ; Enzyme Inhibitors - therapeutic use ; Epilepsies, Myoclonic - drug therapy ; Epilepsies, Myoclonic - epidemiology ; Gaucher disease ; Gaucher Disease - diagnosis ; Gaucher Disease - drug therapy ; Gaucher Disease - epidemiology ; Glucosylceramidase - therapeutic use ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; Imiglucerase ; Male ; Medical genetics ; Medical sciences ; Metabolic diseases ; Metals (hemochromatosis...) ; Miglustat ; Nervous system (semeiology, syndromes) ; Nervous System Diseases - diagnosis ; Nervous System Diseases - drug therapy ; Nervous System Diseases - epidemiology ; Neurologic manifestation ; Neurology ; Other metabolic disorders ; Recombinant Proteins - therapeutic use ; Syndrome ; Treatment Outcome</subject><ispartof>Epilepsia (Copenhagen), 2007-07, Vol.48 (7), p.1406-1408</ispartof><rights>2007 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3974-83ce8f72d9dd3427f57d5e8f585b150a0ca7606b67954fc5c0ef63fcbdb9955c3</citedby><cites>FETCH-LOGICAL-c3974-83ce8f72d9dd3427f57d5e8f585b150a0ca7606b67954fc5c0ef63fcbdb9955c3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1528-1167.2007.01074.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1528-1167.2007.01074.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,1433,27924,27925,45574,45575,46409,46833</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=18920350$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17433057$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Capablo, Jose L.</creatorcontrib><creatorcontrib>Franco, Rafael</creatorcontrib><creatorcontrib>De Cabezón, Alicia Sáenz</creatorcontrib><creatorcontrib>Alfonso, Pilar</creatorcontrib><creatorcontrib>Pocovi, Miguel</creatorcontrib><creatorcontrib>Giraldo, Pilar</creatorcontrib><title>Neurologic Improvement in a Type 3 Gaucher Disease Patient Treated with Imiglucerase/Miglustat Combination</title><title>Epilepsia (Copenhagen)</title><addtitle>Epilepsia</addtitle><description>Purpose: Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of glucocerebrosidase. The neurologic manifestations of GD patients have to date been refractory to any treatment approach. We present a report of a neuronopathic GD patient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat.
Methods: In an adult type 3 GD patient who, despite good visceral and analytic response to ERT, developed progressive neurologic deterioration with marked myoclonic epilepsy and dystonia, we added miglustat to the enzyme‐replacement therapy.
Results: After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks), generalized tonic–clonic seizures decreased, speech improved, and the general neurologic clinical picture improved markedly. The EEG showed a reduction in focal and generalized paroxysmal discharges. No significant adverse effects were observed.
Conclusions: Combined imiglucerase and miglustat therapy may be beneficial for some neuronopathic forms of GD.</description><subject>1-Deoxynojirimycin - analogs & derivatives</subject><subject>1-Deoxynojirimycin - therapeutic use</subject><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Combination therapy</subject><subject>Comorbidity</subject><subject>Complex syndromes</subject><subject>Disease Progression</subject><subject>Drug Administration Schedule</subject><subject>Drug Therapy, Combination</subject><subject>Dystonia - drug therapy</subject><subject>Dystonia - epidemiology</subject><subject>Electroencephalography - drug effects</subject><subject>Electroencephalography - statistics & numerical data</subject><subject>Enzyme Inhibitors - therapeutic use</subject><subject>Epilepsies, Myoclonic - drug therapy</subject><subject>Epilepsies, Myoclonic - epidemiology</subject><subject>Gaucher disease</subject><subject>Gaucher Disease - diagnosis</subject><subject>Gaucher Disease - drug therapy</subject><subject>Gaucher Disease - epidemiology</subject><subject>Glucosylceramidase - therapeutic use</subject><subject>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>Imiglucerase</subject><subject>Male</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Metals (hemochromatosis...)</subject><subject>Miglustat</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Nervous System Diseases - diagnosis</subject><subject>Nervous System Diseases - drug therapy</subject><subject>Nervous System Diseases - epidemiology</subject><subject>Neurologic manifestation</subject><subject>Neurology</subject><subject>Other metabolic disorders</subject><subject>Recombinant Proteins - therapeutic use</subject><subject>Syndrome</subject><subject>Treatment Outcome</subject><issn>0013-9580</issn><issn>1528-1167</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkD1v2zAQhokiRe2m_QsFl2STchRFURoyBI6bGEjbDO5MUNTJoaEPh5Rq-9-Xio1mLRcejs9LHh9CKIOYhXWzjZlI8oixTMYJgIyBgUzjwwcy_3dwQeYAjEeFyGFGPnu_hUBmkn8iMyZTzkHIOdn-xNH1Tb-xhq7anev_YIvdQG1HNV0fd0g5fdCjeUFH761H7ZE-68FOzNqhHrCiezu8hLDdNKNBF4ibH1PtBz3QRd-WtguBvvtCPta68fj1vF-S39-X68Vj9PTrYbW4e4oML2Qa5dxgXsukKqqKp4mshaxE6IhclEyABqNlBlmZyUKktREGsM54bcqqLAohDL8k16d7w29eR_SDaq032DS6w370SoIUBecsgPkJNK733mGtds622h0VAzV5Vls16VSTTjV5Vm-e1SFEv53fGMsWq_fgWWwArs6A9kY3tdOdsf6dy4sEuIDA3Z64vW3w-N8DqOXzaqr4Xy60mbo</recordid><startdate>200707</startdate><enddate>200707</enddate><creator>Capablo, Jose L.</creator><creator>Franco, Rafael</creator><creator>De Cabezón, Alicia Sáenz</creator><creator>Alfonso, Pilar</creator><creator>Pocovi, Miguel</creator><creator>Giraldo, Pilar</creator><general>Blackwell Publishing Inc</general><general>Blackwell</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>7X8</scope></search><sort><creationdate>200707</creationdate><title>Neurologic Improvement in a Type 3 Gaucher Disease Patient Treated with Imiglucerase/Miglustat Combination</title><author>Capablo, Jose L. ; Franco, Rafael ; De Cabezón, Alicia Sáenz ; Alfonso, Pilar ; Pocovi, Miguel ; Giraldo, Pilar</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3974-83ce8f72d9dd3427f57d5e8f585b150a0ca7606b67954fc5c0ef63fcbdb9955c3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>1-Deoxynojirimycin - analogs & derivatives</topic><topic>1-Deoxynojirimycin - therapeutic use</topic><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Combination therapy</topic><topic>Comorbidity</topic><topic>Complex syndromes</topic><topic>Disease Progression</topic><topic>Drug Administration Schedule</topic><topic>Drug Therapy, Combination</topic><topic>Dystonia - drug therapy</topic><topic>Dystonia - epidemiology</topic><topic>Electroencephalography - drug effects</topic><topic>Electroencephalography - statistics & numerical data</topic><topic>Enzyme Inhibitors - therapeutic use</topic><topic>Epilepsies, Myoclonic - drug therapy</topic><topic>Epilepsies, Myoclonic - epidemiology</topic><topic>Gaucher disease</topic><topic>Gaucher Disease - diagnosis</topic><topic>Gaucher Disease - drug therapy</topic><topic>Gaucher Disease - epidemiology</topic><topic>Glucosylceramidase - therapeutic use</topic><topic>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</topic><topic>Humans</topic><topic>Imiglucerase</topic><topic>Male</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Metals (hemochromatosis...)</topic><topic>Miglustat</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Nervous System Diseases - diagnosis</topic><topic>Nervous System Diseases - drug therapy</topic><topic>Nervous System Diseases - epidemiology</topic><topic>Neurologic manifestation</topic><topic>Neurology</topic><topic>Other metabolic disorders</topic><topic>Recombinant Proteins - therapeutic use</topic><topic>Syndrome</topic><topic>Treatment Outcome</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Capablo, Jose L.</creatorcontrib><creatorcontrib>Franco, Rafael</creatorcontrib><creatorcontrib>De Cabezón, Alicia Sáenz</creatorcontrib><creatorcontrib>Alfonso, Pilar</creatorcontrib><creatorcontrib>Pocovi, Miguel</creatorcontrib><creatorcontrib>Giraldo, Pilar</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>MEDLINE - Academic</collection><jtitle>Epilepsia (Copenhagen)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Capablo, Jose L.</au><au>Franco, Rafael</au><au>De Cabezón, Alicia Sáenz</au><au>Alfonso, Pilar</au><au>Pocovi, Miguel</au><au>Giraldo, Pilar</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Neurologic Improvement in a Type 3 Gaucher Disease Patient Treated with Imiglucerase/Miglustat Combination</atitle><jtitle>Epilepsia (Copenhagen)</jtitle><addtitle>Epilepsia</addtitle><date>2007-07</date><risdate>2007</risdate><volume>48</volume><issue>7</issue><spage>1406</spage><epage>1408</epage><pages>1406-1408</pages><issn>0013-9580</issn><eissn>1528-1167</eissn><coden>EPILAK</coden><abstract>Purpose: Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by a deficiency of glucocerebrosidase. The neurologic manifestations of GD patients have to date been refractory to any treatment approach. We present a report of a neuronopathic GD patient whose myoclonic epilepsy improved after combination therapy with imiglucerase and miglustat.
Methods: In an adult type 3 GD patient who, despite good visceral and analytic response to ERT, developed progressive neurologic deterioration with marked myoclonic epilepsy and dystonia, we added miglustat to the enzyme‐replacement therapy.
Results: After 2 years of combined miglustat (200 mg, 3 t.i.d.) and imiglucerase (60 IU/kg every 2 weeks), generalized tonic–clonic seizures decreased, speech improved, and the general neurologic clinical picture improved markedly. The EEG showed a reduction in focal and generalized paroxysmal discharges. No significant adverse effects were observed.
Conclusions: Combined imiglucerase and miglustat therapy may be beneficial for some neuronopathic forms of GD.</abstract><cop>Malden, USA</cop><pub>Blackwell Publishing Inc</pub><pmid>17433057</pmid><doi>10.1111/j.1528-1167.2007.01074.x</doi><tpages>3</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; Wiley Free Content; IngentaConnect Free/Open Access Journals; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | 1-Deoxynojirimycin - analogs & derivatives 1-Deoxynojirimycin - therapeutic use Adult Biological and medical sciences Combination therapy Comorbidity Complex syndromes Disease Progression Drug Administration Schedule Drug Therapy, Combination Dystonia - drug therapy Dystonia - epidemiology Electroencephalography - drug effects Electroencephalography - statistics & numerical data Enzyme Inhibitors - therapeutic use Epilepsies, Myoclonic - drug therapy Epilepsies, Myoclonic - epidemiology Gaucher disease Gaucher Disease - diagnosis Gaucher Disease - drug therapy Gaucher Disease - epidemiology Glucosylceramidase - therapeutic use Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Imiglucerase Male Medical genetics Medical sciences Metabolic diseases Metals (hemochromatosis...) Miglustat Nervous system (semeiology, syndromes) Nervous System Diseases - diagnosis Nervous System Diseases - drug therapy Nervous System Diseases - epidemiology Neurologic manifestation Neurology Other metabolic disorders Recombinant Proteins - therapeutic use Syndrome Treatment Outcome |
| title | Neurologic Improvement in a Type 3 Gaucher Disease Patient Treated with Imiglucerase/Miglustat Combination |
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