MovDisordV3, PascalFrancis, Checkpoint, bibRecord, 001A69

Homozygous and heterozygous PINK1 mutations : Considerations for diagnosis and care of parkinson's disease patients

Identifieur interne : 001A69 ( PascalFrancis/Checkpoint ); précédent : 001A68; suivant : 001A70

Homozygous and heterozygous PINK1 mutations : Considerations for diagnosis and care of parkinson's disease patients

Auteurs : Cindy Zadikoff [Canada] ; Ekaterina Rogaeva [Canada] ; Ana Djarmati [Allemagne] ; Christine Sato [Canada] ; Shabnam Salehi-Rad [Canada] ; Peter St. George-Hyslop [Canada] ; Christine Klein [Canada, Allemagne] ; Anthony E. Lang [Canada]

Source :

Movement disorders [ 0885-3185 ] ; 2006.

RBID : Pascal:06-0352390

Descripteurs français

Pascal (Inist)
- Système nerveux pathologie, Parkinson maladie, Homozygotie, Mutation, Diagnostic, Soin, Homme.
Wicri :
- topic : Homme.

English descriptors

KwdEn :
- Care, Diagnosis, Homozygosity, Human, Mutation, Nervous system diseases, Parkinson disease.

Abstract

The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK] mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care.

Affiliations:

Allemagne, Canada

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Le document en format XML

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<front><div type="abstract" xml:lang="en">The first mutations described in PINK1 were homozygous. More recently, heterozygous mutations have been reported but the role of heterozygosity in disease pathogenesis is still debated. We describe two unrelated cases with PINK] mutations (homozygous nonsense and heterozygous missense) that highlight issues regarding the role of heterozygous mutations and the utility of genetic screening in patient care.</div>
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<s5>38</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>233</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>Allemagne</li>
<li>Canada</li>
</country>
</list>
<tree><country name="Canada"><noRegion><name sortKey="Zadikoff, Cindy" sort="Zadikoff, Cindy" uniqKey="Zadikoff C" first="Cindy" last="Zadikoff">Cindy Zadikoff</name>
</noRegion>
<name sortKey="George Hyslop, Peter St" sort="George Hyslop, Peter St" uniqKey="George Hyslop P" first="Peter St." last="George-Hyslop">Peter St. George-Hyslop</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
<name sortKey="Lang, Anthony E" sort="Lang, Anthony E" uniqKey="Lang A" first="Anthony E." last="Lang">Anthony E. Lang</name>
<name sortKey="Rogaeva, Ekaterina" sort="Rogaeva, Ekaterina" uniqKey="Rogaeva E" first="Ekaterina" last="Rogaeva">Ekaterina Rogaeva</name>
<name sortKey="Salehi Rad, Shabnam" sort="Salehi Rad, Shabnam" uniqKey="Salehi Rad S" first="Shabnam" last="Salehi-Rad">Shabnam Salehi-Rad</name>
<name sortKey="Sato, Christine" sort="Sato, Christine" uniqKey="Sato C" first="Christine" last="Sato">Christine Sato</name>
</country>
<country name="Allemagne"><noRegion><name sortKey="Djarmati, Ana" sort="Djarmati, Ana" uniqKey="Djarmati A" first="Ana" last="Djarmati">Ana Djarmati</name>
</noRegion>
<name sortKey="Klein, Christine" sort="Klein, Christine" uniqKey="Klein C" first="Christine" last="Klein">Christine Klein</name>
</country>
</tree>
</affiliations>
</record>

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	Movement Disorders (revue)
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Movement Disorders (revue)

Homozygous and heterozygous PINK1 mutations : Considerations for diagnosis and care of parkinson's disease patients

Homozygous and heterozygous PINK1 mutations : Considerations for diagnosis and care of parkinson's disease patients

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