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Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)
SCA6 is a slowly progressive, late‐onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L‐dopa–responsive with a pattern of 18F‐dopa uptake similar to Parkinson's diseas...
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| Published in: | Movement disorders 2005-09, Vol.20 (9), p.1115-1119 |
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| Main Authors: | , , , , , , , |
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| cites | cdi_FETCH-LOGICAL-c4224-8837c128bd056cb823272714ce1be35d175f670fcab45f3e16fc3df1c49257c83 |
| container_end_page | 1119 |
| container_issue | 9 |
| container_start_page | 1115 |
| container_title | Movement disorders |
| container_volume | 20 |
| creator | Khan, Naheed L. Giunti, Paola Sweeney, Mary G. Scherfler, Christoph Brien, Michael O. Piccini, Paola Wood, Nicholas W. Lees, Andrew J. |
| description | SCA6 is a slowly progressive, late‐onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L‐dopa–responsive with a pattern of 18F‐dopa uptake similar to Parkinson's disease, and the second case was not L‐dopa–responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy. © 2005 Movement Disorder Society |
| doi_str_mv | 10.1002/mds.20564 |
| format | article |
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We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L‐dopa–responsive with a pattern of 18F‐dopa uptake similar to Parkinson's disease, and the second case was not L‐dopa–responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy. © 2005 Movement Disorder Society</description><identifier>ISSN: 0885-3185</identifier><identifier>EISSN: 1531-8257</identifier><identifier>DOI: 10.1002/mds.20564</identifier><identifier>PMID: 15954136</identifier><language>eng</language><publisher>Hoboken: Wiley Subscription Services, Inc., A Wiley Company</publisher><subject>Adult ; Aged ; Aged, 80 and over ; Biological and medical sciences ; CACNA1Al 18F Dopa PET ; Calcium Channels - genetics ; cerebellar ataxia ; Corpus Striatum - metabolism ; Corpus Striatum - physiopathology ; Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases ; Female ; Fluorodeoxyglucose F18 - pharmacokinetics ; Human viral diseases ; Humans ; Infectious diseases ; Male ; Medical sciences ; Middle Aged ; Neurology ; Parkinsonian Disorders - diagnosis ; Parkinsonian Disorders - etiology ; Parkinsonian Disorders - physiopathology ; parkinsonism ; Pedigree ; Phenotype ; Point Mutation - genetics ; Positron-Emission Tomography ; SCA6 ; Spinocerebellar Ataxias - complications ; Spinocerebellar Ataxias - diagnosis ; Spinocerebellar Ataxias - genetics ; Substantia Nigra - metabolism ; Substantia Nigra - physiopathology ; Trinucleotide Repeat Expansion - genetics ; Viral diseases ; Viral diseases of the nervous system</subject><ispartof>Movement disorders, 2005-09, Vol.20 (9), p.1115-1119</ispartof><rights>Copyright © 2005 Movement Disorder Society</rights><rights>2005 INIST-CNRS</rights><rights>(c) 2005 Movement Disorder Society.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4224-8837c128bd056cb823272714ce1be35d175f670fcab45f3e16fc3df1c49257c83</citedby><cites>FETCH-LOGICAL-c4224-8837c128bd056cb823272714ce1be35d175f670fcab45f3e16fc3df1c49257c83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,778,782,27907,27908</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17224475$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15954136$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Khan, Naheed L.</creatorcontrib><creatorcontrib>Giunti, Paola</creatorcontrib><creatorcontrib>Sweeney, Mary G.</creatorcontrib><creatorcontrib>Scherfler, Christoph</creatorcontrib><creatorcontrib>Brien, Michael O.</creatorcontrib><creatorcontrib>Piccini, Paola</creatorcontrib><creatorcontrib>Wood, Nicholas W.</creatorcontrib><creatorcontrib>Lees, Andrew J.</creatorcontrib><title>Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)</title><title>Movement disorders</title><addtitle>Mov. Disord</addtitle><description>SCA6 is a slowly progressive, late‐onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L‐dopa–responsive with a pattern of 18F‐dopa uptake similar to Parkinson's disease, and the second case was not L‐dopa–responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy. © 2005 Movement Disorder Society</description><subject>Adult</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Biological and medical sciences</subject><subject>CACNA1Al 18F Dopa PET</subject><subject>Calcium Channels - genetics</subject><subject>cerebellar ataxia</subject><subject>Corpus Striatum - metabolism</subject><subject>Corpus Striatum - physiopathology</subject><subject>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</subject><subject>Female</subject><subject>Fluorodeoxyglucose F18 - pharmacokinetics</subject><subject>Human viral diseases</subject><subject>Humans</subject><subject>Infectious diseases</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Neurology</subject><subject>Parkinsonian Disorders - diagnosis</subject><subject>Parkinsonian Disorders - etiology</subject><subject>Parkinsonian Disorders - physiopathology</subject><subject>parkinsonism</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Point Mutation - genetics</subject><subject>Positron-Emission Tomography</subject><subject>SCA6</subject><subject>Spinocerebellar Ataxias - complications</subject><subject>Spinocerebellar Ataxias - diagnosis</subject><subject>Spinocerebellar Ataxias - genetics</subject><subject>Substantia Nigra - metabolism</subject><subject>Substantia Nigra - physiopathology</subject><subject>Trinucleotide Repeat Expansion - genetics</subject><subject>Viral diseases</subject><subject>Viral diseases of the nervous system</subject><issn>0885-3185</issn><issn>1531-8257</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><recordid>eNqFkUtvEzEURi0EoqGw4A8gb0B0Ma3fdpdVCimQAFJBLC2PxwbDjCf4TtTm3-OQQFeI1V34fPdxjNBTSk4pIexs6OCUEanEPTSjktPGMKnvoxkxRjacGnmEHgF8J4RSSdVDdETluRSUqxnyH135kTKMOcGAXe5wTl_LCFNJbnI97rYQN9lPaczYlYAdwOjrU-jwTZq-YVinPPpQQhv63hVcQ7fJ4Wm7Dljhl9fzC3XyGD2Irofw5FCP0efXrz7Nr5rlh8Wb-cWy8YIx0RjDtafMtF09xbeGcaaZpsIH2gYuO6plVJpE71ohIw9URc-7SL04r-d6w4_Ri33fdRl_bgJMdkjgd3vlMG7AKiOZFoL_F2R0J0jqCp7sQV-VQAnRrksaXNlaSuxOva3q7W_1lX12aLpph9DdkQfXFXh-ABx418fisk9wx-kqQWhZubM9d5P6sP33RLu6vP4zutknEkzh9m-i_qxVmmtpv7xf2OXi3ert8mplL_kvX7qpmA</recordid><startdate>200509</startdate><enddate>200509</enddate><creator>Khan, Naheed L.</creator><creator>Giunti, Paola</creator><creator>Sweeney, Mary G.</creator><creator>Scherfler, Christoph</creator><creator>Brien, Michael O.</creator><creator>Piccini, Paola</creator><creator>Wood, Nicholas W.</creator><creator>Lees, Andrew J.</creator><general>Wiley Subscription Services, Inc., A Wiley Company</general><general>Wiley</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>7TK</scope><scope>7X8</scope><scope>8BM</scope></search><sort><creationdate>200509</creationdate><title>Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)</title><author>Khan, Naheed L. ; Giunti, Paola ; Sweeney, Mary G. ; Scherfler, Christoph ; Brien, Michael O. ; Piccini, Paola ; Wood, Nicholas W. ; Lees, Andrew J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4224-8837c128bd056cb823272714ce1be35d175f670fcab45f3e16fc3df1c49257c83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Biological and medical sciences</topic><topic>CACNA1Al 18F Dopa PET</topic><topic>Calcium Channels - genetics</topic><topic>cerebellar ataxia</topic><topic>Corpus Striatum - metabolism</topic><topic>Corpus Striatum - physiopathology</topic><topic>Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases</topic><topic>Female</topic><topic>Fluorodeoxyglucose F18 - pharmacokinetics</topic><topic>Human viral diseases</topic><topic>Humans</topic><topic>Infectious diseases</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Neurology</topic><topic>Parkinsonian Disorders - diagnosis</topic><topic>Parkinsonian Disorders - etiology</topic><topic>Parkinsonian Disorders - physiopathology</topic><topic>parkinsonism</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Point Mutation - genetics</topic><topic>Positron-Emission Tomography</topic><topic>SCA6</topic><topic>Spinocerebellar Ataxias - complications</topic><topic>Spinocerebellar Ataxias - diagnosis</topic><topic>Spinocerebellar Ataxias - genetics</topic><topic>Substantia Nigra - metabolism</topic><topic>Substantia Nigra - physiopathology</topic><topic>Trinucleotide Repeat Expansion - genetics</topic><topic>Viral diseases</topic><topic>Viral diseases of the nervous system</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Khan, Naheed L.</creatorcontrib><creatorcontrib>Giunti, Paola</creatorcontrib><creatorcontrib>Sweeney, Mary G.</creatorcontrib><creatorcontrib>Scherfler, Christoph</creatorcontrib><creatorcontrib>Brien, Michael O.</creatorcontrib><creatorcontrib>Piccini, Paola</creatorcontrib><creatorcontrib>Wood, Nicholas W.</creatorcontrib><creatorcontrib>Lees, Andrew J.</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>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><collection>ComDisDome</collection><jtitle>Movement disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Khan, Naheed L.</au><au>Giunti, Paola</au><au>Sweeney, Mary G.</au><au>Scherfler, Christoph</au><au>Brien, Michael O.</au><au>Piccini, Paola</au><au>Wood, Nicholas W.</au><au>Lees, Andrew J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6)</atitle><jtitle>Movement disorders</jtitle><addtitle>Mov. Disord</addtitle><date>2005-09</date><risdate>2005</risdate><volume>20</volume><issue>9</issue><spage>1115</spage><epage>1119</epage><pages>1115-1119</pages><issn>0885-3185</issn><eissn>1531-8257</eissn><abstract>SCA6 is a slowly progressive, late‐onset cerebellar ataxia due to a trinucleotide expansion in the CACNA1A gene. We describe two unrelated cases that presented with Parkinsonism and cerebellar ataxia. One case was L‐dopa–responsive with a pattern of 18F‐dopa uptake similar to Parkinson's disease, and the second case was not L‐dopa–responsive and had an atypical pattern of nigrostriatal dysfunction. We suggest that SCA6, in common with SCA2 and SCA3, may be associated with Parkinsonism attributable to nigral loss and dopaminergic dysfunction. Moreover, isolated cases may be confused with multiple system atrophy. © 2005 Movement Disorder Society</abstract><cop>Hoboken</cop><pub>Wiley Subscription Services, Inc., A Wiley Company</pub><pmid>15954136</pmid><doi>10.1002/mds.20564</doi><tpages>5</tpages></addata></record> |
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| source | Wiley-Blackwell Read & Publish Collection |
| subjects | Adult Aged Aged, 80 and over Biological and medical sciences CACNA1Al 18F Dopa PET Calcium Channels - genetics cerebellar ataxia Corpus Striatum - metabolism Corpus Striatum - physiopathology Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Fluorodeoxyglucose F18 - pharmacokinetics Human viral diseases Humans Infectious diseases Male Medical sciences Middle Aged Neurology Parkinsonian Disorders - diagnosis Parkinsonian Disorders - etiology Parkinsonian Disorders - physiopathology parkinsonism Pedigree Phenotype Point Mutation - genetics Positron-Emission Tomography SCA6 Spinocerebellar Ataxias - complications Spinocerebellar Ataxias - diagnosis Spinocerebellar Ataxias - genetics Substantia Nigra - metabolism Substantia Nigra - physiopathology Trinucleotide Repeat Expansion - genetics Viral diseases Viral diseases of the nervous system |
| title | Parkinsonism and nigrostriatal dysfunction are associated with spinocerebellar ataxia type 6 (SCA6) |
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