Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study
Identifieur interne : 000D64 ( Main/Exploration ); précédent : 000D63; suivant : 000D65Late onset sporadic Parkinson's disease caused by PINK1 mutations: Clinical and functional study
Auteurs : Vania Gelmetti [Italie] ; Alessandro Ferraris [Italie] ; Livia Brusa [Italie] ; Francesca Romano [Italie] ; Federica Lombardi [Italie] ; Chiara Barzaghi [Italie] ; Paolo Stanzione [Italie] ; Barbara Garavaglia [Italie] ; Bruno Dallapiccola [Italie] ; Enza Maria Valente [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2008-04-30.
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Abstract
Homozygous or compound heterozygous mutations in the PINK1 gene represent the second most frequent cause of autosomal recessive parkinsonism after Parkin. The phenotype differs from idiopathic Parkinson's disease for earlier onset, slower disease progression, and better response to therapy. Indeed, the rare patients with onset above 50 years are usually relatives of early‐onset probands. Here, we report the first occurrence of compound heterozygous PINK1 mutations in a sporadic patient with a phenotype indistinguishable from idiopathic Parkinson's disease (PD), with onset in the late seventh decade, rapid progression and good response to levodopa that waned with time. Both mutations (p.A244G and p.V317I) were found to abolish the protective effect of wild‐type PINK1 against staurosporine‐induced apoptosis. These findings further expand the clinical spectrum of PINK1‐related parkinsonism to include late onset, typical PD, and underline the existing difficulties in discriminating between mendelian parkinsonism and idiopathic PD. © 2008 Movement Disorder Society
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DOI: 10.1002/mds.21960
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Disord.</title><idno type="ISSN">0885-3185</idno><idno type="eISSN">1531-8257</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2008-04-30">2008-04-30</date><biblScope unit="volume">23</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="881">881</biblScope><biblScope unit="page" to="885">885</biblScope></imprint><idno type="ISSN">0885-3185</idno></series><idno type="istex">73ABBC5F0EFF9D9C5FA66E716E00BDA1C92D3911</idno><idno type="DOI">10.1002/mds.21960</idno><idno type="ArticleID">MDS21960</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0885-3185</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>PINK1</term><term>Parkinson's disease</term><term>TUNEL assay</term><term>apoptosis</term><term>autosomal recessive parkinsonism</term><term>late onset</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Homozygous or compound heterozygous mutations in the PINK1 gene represent the second most frequent cause of autosomal recessive parkinsonism after Parkin. The phenotype differs from idiopathic Parkinson's disease for earlier onset, slower disease progression, and better response to therapy. Indeed, the rare patients with onset above 50 years are usually relatives of early‐onset probands. Here, we report the first occurrence of compound heterozygous PINK1 mutations in a sporadic patient with a phenotype indistinguishable from idiopathic Parkinson's disease (PD), with onset in the late seventh decade, rapid progression and good response to levodopa that waned with time. Both mutations (p.A244G and p.V317I) were found to abolish the protective effect of wild‐type PINK1 against staurosporine‐induced apoptosis. These findings further expand the clinical spectrum of PINK1‐related parkinsonism to include late onset, typical PD, and underline the existing difficulties in discriminating between mendelian parkinsonism and idiopathic PD. © 2008 Movement Disorder Society</div></front></TEI><affiliations><list><country><li>Italie</li></country><region><li>Latium</li><li>Lombardie</li></region><settlement><li>Milan</li><li>Rome</li></settlement></list><tree><country name="Italie"><region name="Latium"><name sortKey="Gelmetti, Vania" sort="Gelmetti, Vania" uniqKey="Gelmetti V" first="Vania" last="Gelmetti">Vania Gelmetti</name></region><name sortKey="Barzaghi, Chiara" sort="Barzaghi, Chiara" uniqKey="Barzaghi C" first="Chiara" last="Barzaghi">Chiara Barzaghi</name><name sortKey="Brusa, Livia" sort="Brusa, Livia" uniqKey="Brusa L" first="Livia" last="Brusa">Livia Brusa</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Dallapiccola, Bruno" sort="Dallapiccola, Bruno" uniqKey="Dallapiccola B" first="Bruno" last="Dallapiccola">Bruno Dallapiccola</name><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><name sortKey="Ferraris, Alessandro" sort="Ferraris, Alessandro" uniqKey="Ferraris A" first="Alessandro" last="Ferraris">Alessandro Ferraris</name><name sortKey="Garavaglia, Barbara" sort="Garavaglia, Barbara" uniqKey="Garavaglia B" first="Barbara" last="Garavaglia">Barbara Garavaglia</name><name sortKey="Lombardi, Federica" sort="Lombardi, Federica" uniqKey="Lombardi F" first="Federica" last="Lombardi">Federica Lombardi</name><name sortKey="Lombardi, Federica" sort="Lombardi, Federica" uniqKey="Lombardi F" first="Federica" last="Lombardi">Federica Lombardi</name><name sortKey="Romano, Francesca" sort="Romano, Francesca" uniqKey="Romano F" first="Francesca" last="Romano">Francesca Romano</name><name sortKey="Romano, Francesca" sort="Romano, Francesca" uniqKey="Romano F" first="Francesca" last="Romano">Francesca Romano</name><name sortKey="Stanzione, Paolo" sort="Stanzione, Paolo" uniqKey="Stanzione P" first="Paolo" last="Stanzione">Paolo Stanzione</name><name sortKey="Stanzione, Paolo" sort="Stanzione, Paolo" uniqKey="Stanzione P" first="Paolo" last="Stanzione">Paolo Stanzione</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name><name sortKey="Valente, Enza Maria" sort="Valente, Enza Maria" uniqKey="Valente E" first="Enza Maria" last="Valente">Enza Maria Valente</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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