Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
Identifieur interne : 000483 ( PubMed/Checkpoint ); précédent : 000482; suivant : 000484Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.
Auteurs : Lucia Ricciardi [Italie] ; Simona Petrucci ; Arianna Guidubaldi ; Tamara Ialongo ; Laura Serra ; Alessandro Ferraris ; Barbara Span ; Marco Bozzali ; Enza Maria Valente ; Anna Rita BentivoglioSource :
- Movement disorders : official journal of the Movement Disorder Society [ 1531-8257 ] ; 2014.
Descripteurs français
- Wicri :
- geographic : Italie.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Protein Kinases.
- geographic : Italy.
- genetics : Mutation, Parkinsonian Disorders.
- Adult, Disease Progression, Family Leave, Female, Heterozygote, Humans, Longitudinal Studies, Male, Mental Status Schedule, Middle Aged, Phenotype, Severity of Illness Index.
Abstract
Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.
DOI: 10.1002/mds.25994
PubMed: 25164310
Affiliations:
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Guidubaldi</name></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name></author><author><name sortKey="Serra, Laura" sort="Serra, Laura" uniqKey="Serra L" first="Laura" last="Serra">Laura Serra</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="Span, Barbara" sort="Span, Barbara" uniqKey="Span B" first="Barbara" last="Span">Barbara Span</name></author><author><name sortKey="Bozzali, Marco" sort="Bozzali, Marco" uniqKey="Bozzali M" first="Marco" last="Bozzali">Marco Bozzali</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2014">2014</date><idno type="RBID">pubmed:25164310</idno><idno type="pmid">25164310</idno><idno type="doi">10.1002/mds.25994</idno><idno type="wicri:Area/PubMed/Corpus">000406</idno><idno type="wicri:Area/PubMed/Curation">000406</idno><idno type="wicri:Area/PubMed/Checkpoint">000483</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.</title><author><name sortKey="Ricciardi, Lucia" sort="Ricciardi, Lucia" uniqKey="Ricciardi L" first="Lucia" last="Ricciardi">Lucia Ricciardi</name><affiliation wicri:level="3"><nlm:affiliation>Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.</nlm:affiliation><country xml:lang="fr">Italie</country><wicri:regionArea>Institute of Neurology, Università Cattolica del Sacro Cuore, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name></author><author><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name></author><author><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name></author><author><name sortKey="Serra, Laura" sort="Serra, Laura" uniqKey="Serra L" first="Laura" last="Serra">Laura Serra</name></author><author><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name></author><author><name sortKey="Span, Barbara" sort="Span, Barbara" uniqKey="Span B" first="Barbara" last="Span">Barbara Span</name></author><author><name sortKey="Bozzali, Marco" sort="Bozzali, Marco" uniqKey="Bozzali M" first="Marco" last="Bozzali">Marco Bozzali</name></author><author><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></author><author><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name></author></analytic><series><title level="j">Movement disorders : official journal of the Movement Disorder Society</title><idno type="eISSN">1531-8257</idno><imprint><date when="2014" type="published">2014</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Disease Progression</term><term>Family Leave</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Italy</term><term>Longitudinal Studies</term><term>Male</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Mutation (genetics)</term><term>Parkinsonian Disorders (genetics)</term><term>Phenotype</term><term>Protein Kinases (genetics)</term><term>Severity of Illness Index</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Protein Kinases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Italy</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Mutation</term><term>Parkinsonian Disorders</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Disease Progression</term><term>Family Leave</term><term>Female</term><term>Heterozygote</term><term>Humans</term><term>Longitudinal Studies</term><term>Male</term><term>Mental Status Schedule</term><term>Middle Aged</term><term>Phenotype</term><term>Severity of Illness Index</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Italie</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.</div></front></TEI><pubmed><MedlineCitation Owner="NLM" Status="MEDLINE"><PMID Version="1">25164310</PMID><DateCreated><Year>2014</Year><Month>10</Month><Day>06</Day></DateCreated><DateCompleted><Year>2015</Year><Month>06</Month><Day>03</Day></DateCompleted><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1531-8257</ISSN><JournalIssue CitedMedium="Internet"><Volume>29</Volume><Issue>12</Issue><PubDate><Year>2014</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Movement disorders : official journal of the Movement Disorder Society</Title><ISOAbbreviation>Mov. Disord.</ISOAbbreviation></Journal><ArticleTitle>Phenotypic variability of PINK1 expression: 12 Years' clinical follow-up of two Italian families.</ArticleTitle><Pagination><MedlinePgn>1561-6</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1002/mds.25994</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Mutations in the PINK1 gene are the second most frequent cause of autosomal recessive early-onset parkinsonism.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We evaluated five affected PINK1 homozygous and 14 heterozygous mutation carriers from two large Italian families over a 12-year follow-up period. Motor, nonmotor, cognitive, psychiatric, and behavioral profiles were systematically assessed. Four homozygotes and eight heterozygotes underwent magnetic resonance imaging.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">All homozygotes showed a mild progression of motor signs and a persistent excellent response to levodopa. All but one patient complained of nonmotor symptoms and sleep impairment. Three presented impulse control disorders and two anxiety and apathy. All obtained abnormal scores at Montreal Cognitive Assessment (MoCA) and in tests sensitive to frontal functions; one presented a global cognitive impairment. Three heterozygotes showed motor signs and were diagnosed as possibly affected. They had nonmotor symptoms and cognitive impairment, and two of them showed mild bilateral temporal atrophy. Five unaffected heterozygotes reported abnormal scores at MoCA and low performances at tests sensitive to frontal functions.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">We expanded the phenotypic profile of PINK1-related parkinsonism, including psychiatric and cognitive features as part of clinical presentation.</AbstractText><CopyrightInformation>© 2014 International Parkinson and Movement Disorder Society.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Ricciardi</LastName><ForeName>Lucia</ForeName><Initials>L</Initials><AffiliationInfo><Affiliation>Institute of Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Petrucci</LastName><ForeName>Simona</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Guidubaldi</LastName><ForeName>Arianna</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ialongo</LastName><ForeName>Tamara</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Serra</LastName><ForeName>Laura</ForeName><Initials>L</Initials></Author><Author ValidYN="Y"><LastName>Ferraris</LastName><ForeName>Alessandro</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Spanò</LastName><ForeName>Barbara</ForeName><Initials>B</Initials></Author><Author ValidYN="Y"><LastName>Bozzali</LastName><ForeName>Marco</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Valente</LastName><ForeName>Enza Maria</ForeName><Initials>EM</Initials></Author><Author ValidYN="Y"><LastName>Bentivoglio</LastName><ForeName>Anna Rita</ForeName><Initials>AR</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2014</Year><Month>08</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Mov Disord</MedlineTA><NlmUniqueID>8610688</NlmUniqueID><ISSNLinking>0885-3185</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.7.-</RegistryNumber><NameOfSubstance UI="D011494">Protein Kinases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.11.1</RegistryNumber><NameOfSubstance UI="C433927">PTEN-induced putative kinase</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName MajorTopicYN="N" UI="D000328">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D018450">Disease Progression</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="Y" UI="D017407">Family Leave</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D005260">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006579">Heterozygote</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D006801">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" Type="Geographic" UI="D007558">Italy</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008137">Longitudinal Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008297">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008609">Mental Status Schedule</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D008875">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D009154">Mutation</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D020734">Parkinsonian Disorders</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D010641">Phenotype</DescriptorName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D011494">Protein Kinases</DescriptorName><QualifierName MajorTopicYN="Y" UI="Q000235">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName MajorTopicYN="N" UI="D012720">Severity of Illness Index</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">PINK1</Keyword><Keyword MajorTopicYN="N">Parkinson disease</Keyword><Keyword MajorTopicYN="N">autosomal recessive early-onset parkinsonism</Keyword><Keyword MajorTopicYN="N">heterozygotes</Keyword><Keyword MajorTopicYN="N">nonmotor signs</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate 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IdType="doi">10.1002/mds.25994</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Italie</li></country><region><li>Latium</li></region><settlement><li>Rome</li></settlement></list><tree><noCountry><name sortKey="Bentivoglio, Anna Rita" sort="Bentivoglio, Anna Rita" uniqKey="Bentivoglio A" first="Anna Rita" last="Bentivoglio">Anna Rita Bentivoglio</name><name sortKey="Bozzali, Marco" sort="Bozzali, Marco" uniqKey="Bozzali M" first="Marco" last="Bozzali">Marco Bozzali</name><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><name sortKey="Guidubaldi, Arianna" sort="Guidubaldi, Arianna" uniqKey="Guidubaldi A" first="Arianna" last="Guidubaldi">Arianna Guidubaldi</name><name sortKey="Ialongo, Tamara" sort="Ialongo, Tamara" uniqKey="Ialongo T" first="Tamara" last="Ialongo">Tamara Ialongo</name><name sortKey="Petrucci, Simona" sort="Petrucci, Simona" uniqKey="Petrucci S" first="Simona" last="Petrucci">Simona Petrucci</name><name sortKey="Serra, Laura" sort="Serra, Laura" uniqKey="Serra L" first="Laura" last="Serra">Laura Serra</name><name sortKey="Span, Barbara" sort="Span, Barbara" uniqKey="Span B" first="Barbara" last="Span">Barbara Span</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></noCountry><country name="Italie"><region name="Latium"><name sortKey="Ricciardi, Lucia" sort="Ricciardi, Lucia" uniqKey="Ricciardi L" first="Lucia" last="Ricciardi">Lucia Ricciardi</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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