Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci
Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2. Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a...
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| Veröffentlicht in: | Parkinsonism & related disorders 2003-03, Vol.9 (4), p.193-200 |
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| creator | Krygowska-Wajs, Anna Hussey, Jennifer M Hulihan, Mary Farrer, Matthew J Tsuboi, Yoshio Uitti, Ryan J Wszolek, Zbigniew K |
| description | Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2.
Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism.
Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures. |
| doi_str_mv | 10.1016/S1353-8020(02)00036-6 |
| format | Article |
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Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism.
Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.</description><identifier>ISSN: 1353-8020</identifier><identifier>EISSN: 1873-5126</identifier><identifier>DOI: 10.1016/S1353-8020(02)00036-6</identifier><identifier>PMID: 12618053</identifier><language>eng</language><publisher>England: Elsevier Ltd</publisher><subject>Activities of Daily Living ; Adult ; Age of Onset ; Aged ; Anticipation ; Antiparkinson Agents - therapeutic use ; Autosomal dominant inheritance ; Dementia - etiology ; Disease Progression ; Familial Parkinson's disease ; Female ; Genetic Linkage ; Humans ; Levodopa - therapeutic use ; Male ; Middle Aged ; Molecular Biology ; Molecular genetics ; Parkinsonian Disorders - complications ; Parkinsonian Disorders - drug therapy ; Parkinsonian Disorders - genetics ; Pedigree ; Phenotype ; Poland ; Urinary Incontinence - etiology</subject><ispartof>Parkinsonism & related disorders, 2003-03, Vol.9 (4), p.193-200</ispartof><rights>2002 Elsevier Science Ltd</rights><rights>Copyright 2002 Elsevier Science Ltd.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c361t-5f2298bb1dba625f76b9c96380bc016c70abbc01e3db008dc504a34bca13c6e13</citedby><cites>FETCH-LOGICAL-c361t-5f2298bb1dba625f76b9c96380bc016c70abbc01e3db008dc504a34bca13c6e13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1353802002000366$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12618053$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Krygowska-Wajs, Anna</creatorcontrib><creatorcontrib>Hussey, Jennifer M</creatorcontrib><creatorcontrib>Hulihan, Mary</creatorcontrib><creatorcontrib>Farrer, Matthew J</creatorcontrib><creatorcontrib>Tsuboi, Yoshio</creatorcontrib><creatorcontrib>Uitti, Ryan J</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K</creatorcontrib><title>Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci</title><title>Parkinsonism & related disorders</title><addtitle>Parkinsonism Relat Disord</addtitle><description>Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2.
Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism.
Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.</description><subject>Activities of Daily Living</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Anticipation</subject><subject>Antiparkinson Agents - therapeutic use</subject><subject>Autosomal dominant inheritance</subject><subject>Dementia - etiology</subject><subject>Disease Progression</subject><subject>Familial Parkinson's disease</subject><subject>Female</subject><subject>Genetic Linkage</subject><subject>Humans</subject><subject>Levodopa - therapeutic use</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Molecular Biology</subject><subject>Molecular genetics</subject><subject>Parkinsonian Disorders - complications</subject><subject>Parkinsonian Disorders - drug therapy</subject><subject>Parkinsonian Disorders - genetics</subject><subject>Pedigree</subject><subject>Phenotype</subject><subject>Poland</subject><subject>Urinary Incontinence - etiology</subject><issn>1353-8020</issn><issn>1873-5126</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1LAzEQhoMoflR_gpKT6GF1sulmtycR8QsEBes55GOqsdukJtsW_72prejN0wzMMzO8DyGHDM4YMHH-zHjFiwZKOIHyFAC4KMQG2WVNzYuKlWIz9z_IDtlL6T1DdQV8m-zkMWug4rskDBeBtiq-In0KrUtvdOy8jWgTXbjujbY4DzZMVRExTYNPbp5BFTOUgndpQn3oaOv8GC3tAh37sPB_AOXpK3pMVHlL22DcPtkaqTbhwbr2yMvN9fDqrnh4vL2_unwoDBesK6pRWQ4arZnVSpTVqBZ6YAaCN6BNTm9qUHrZIbcaoLGmgr7ifW0U40Yg4z1yvLo7jeFjhqmTE5cMtq3yGGZJ1hxqMcjWeqRagSaGlCKO5DS6iYqfkoFcmpbfpuVSo4RSfpuWIu8drR_M9ATt79ZabQYuVgDmmHOHUSbj0Bu0LqLppA3unxdfH3iPmQ</recordid><startdate>20030301</startdate><enddate>20030301</enddate><creator>Krygowska-Wajs, Anna</creator><creator>Hussey, Jennifer M</creator><creator>Hulihan, Mary</creator><creator>Farrer, Matthew J</creator><creator>Tsuboi, Yoshio</creator><creator>Uitti, Ryan J</creator><creator>Wszolek, Zbigniew K</creator><general>Elsevier Ltd</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>7X8</scope></search><sort><creationdate>20030301</creationdate><title>Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci</title><author>Krygowska-Wajs, Anna ; Hussey, Jennifer M ; Hulihan, Mary ; Farrer, Matthew J ; Tsuboi, Yoshio ; Uitti, Ryan J ; Wszolek, Zbigniew K</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c361t-5f2298bb1dba625f76b9c96380bc016c70abbc01e3db008dc504a34bca13c6e13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Activities of Daily Living</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Anticipation</topic><topic>Antiparkinson Agents - therapeutic use</topic><topic>Autosomal dominant inheritance</topic><topic>Dementia - etiology</topic><topic>Disease Progression</topic><topic>Familial Parkinson's disease</topic><topic>Female</topic><topic>Genetic Linkage</topic><topic>Humans</topic><topic>Levodopa - therapeutic use</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Molecular Biology</topic><topic>Molecular genetics</topic><topic>Parkinsonian Disorders - complications</topic><topic>Parkinsonian Disorders - drug therapy</topic><topic>Parkinsonian Disorders - genetics</topic><topic>Pedigree</topic><topic>Phenotype</topic><topic>Poland</topic><topic>Urinary Incontinence - etiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Krygowska-Wajs, Anna</creatorcontrib><creatorcontrib>Hussey, Jennifer M</creatorcontrib><creatorcontrib>Hulihan, Mary</creatorcontrib><creatorcontrib>Farrer, Matthew J</creatorcontrib><creatorcontrib>Tsuboi, Yoshio</creatorcontrib><creatorcontrib>Uitti, Ryan J</creatorcontrib><creatorcontrib>Wszolek, Zbigniew K</creatorcontrib><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>Parkinsonism & related disorders</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Krygowska-Wajs, Anna</au><au>Hussey, Jennifer M</au><au>Hulihan, Mary</au><au>Farrer, Matthew J</au><au>Tsuboi, Yoshio</au><au>Uitti, Ryan J</au><au>Wszolek, Zbigniew K</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci</atitle><jtitle>Parkinsonism & related disorders</jtitle><addtitle>Parkinsonism Relat Disord</addtitle><date>2003-03-01</date><risdate>2003</risdate><volume>9</volume><issue>4</issue><spage>193</spage><epage>200</epage><pages>193-200</pages><issn>1353-8020</issn><eissn>1873-5126</eissn><abstract>Purpose. We describe two newly discovered large Polish families with Parkinsonism, PL-Krakow 1 and PL-Krakow 2.
Scope. As illustrated by case reports from two patients, the disease phenotype is similar to that seen in patients with idiopathic Parkinson's disease, and affected individuals show a positive response to levodopa therapy. Molecular genetic studies failed to demonstrate a single chromosomal haplotype that segregated with disease for any of the known loci for Parkinsonism.
Conclusions. The study of large kindreds such as this provides opportunities to find new Parkinsonian loci and mutations. This knowledge will help to better our understanding of the basic mechanisms leading to the degeneration of vulnerable substantia nigra neurons and other susceptible brain structures.</abstract><cop>England</cop><pub>Elsevier Ltd</pub><pmid>12618053</pmid><doi>10.1016/S1353-8020(02)00036-6</doi><tpages>8</tpages></addata></record> |
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| subjects | Activities of Daily Living Adult Age of Onset Aged Anticipation Antiparkinson Agents - therapeutic use Autosomal dominant inheritance Dementia - etiology Disease Progression Familial Parkinson's disease Female Genetic Linkage Humans Levodopa - therapeutic use Male Middle Aged Molecular Biology Molecular genetics Parkinsonian Disorders - complications Parkinsonian Disorders - drug therapy Parkinsonian Disorders - genetics Pedigree Phenotype Poland Urinary Incontinence - etiology |
| title | Two large Polish kindreds with levodopa-responsive Parkinsonism not linked to known Parkinsonian genes and loci |
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