Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism
Identifieur interne : 000F99 ( PascalFrancis/Corpus ); précédent : 000F98; suivant : 001000Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism
Auteurs : Ming-Jen Lee ; Ignacio F. Mata ; Chin-Hsien Lin ; Kai-Yuan Tzen ; Sarah J. Lincoln ; Rebecca Bounds ; Paul J. Lockhart ; Mary M. Hulihan ; Matthew J. Farrer ; Ruey-Meei WuSource :
- Movement disorders [ 0885-3185 ] ; 2009.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
Abstract
We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ-1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese-Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy.
Notice en format standard (ISO 2709)
Pour connaître la documentation sur le format Inist Standard.
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Format Inist (serveur)
NO : | PASCAL 09-0094114 INIST |
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ET : | Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism |
AU : | LEE (Ming-Jen); MATA (Ignacio F.); LIN (Chin-Hsien); TZEN (Kai-Yuan); LINCOLN (Sarah J.); BOUNDS (Rebecca); LOCKHART (Paul J.); HULIHAN (Mary M.); FARRER (Matthew J.); WU (Ruey-Meei) |
AF : | Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (1 aut.); Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine/Jacksonville, Florida/Etats-Unis (2 aut., 5 aut., 6 aut., 8 aut., 9 aut.); Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (3 aut., 10 aut.); Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (4 aut.); Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute/Melbourne, Victoria/Australie (7 aut.) |
DT : | Publication en série; Courte communication, note brève; Niveau analytique |
SO : | Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 1; Pp. 104-108; Bibl. 31 ref. |
LA : | Anglais |
EA : | We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ-1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese-Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy. |
CC : | 002B17; 002B17G |
FD : | Parkinsonisme; Maladie de Parkinson; Pathologie du système nerveux; Génotype; Phénotype; Homme; Parkine |
FG : | Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central |
ED : | Parkinsonism; Parkinson disease; Nervous system diseases; Genotype; Phenotype; Human; Parkin |
EG : | Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease |
SD : | Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Genotipo; Fenotipo; Hombre; Parkin |
LO : | INIST-20953.354000186473060140 |
ID : | 09-0094114 |
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Pascal:09-0094114Le document en format XML
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<front><div type="abstract" xml:lang="en">We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ-1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese-Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy.</div>
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</fC03>
<fC03 i1="06" i2="X" l="SPA"><s0>Hombre</s0>
<s5>11</s5>
</fC03>
<fC03 i1="07" i2="X" l="FRE"><s0>Parkine</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="ENG"><s0>Parkin</s0>
<s5>12</s5>
</fC03>
<fC03 i1="07" i2="X" l="SPA"><s0>Parkin</s0>
<s5>12</s5>
</fC03>
<fC07 i1="01" i2="X" l="FRE"><s0>Pathologie de l'encéphale</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>38</s5>
</fC07>
<fC07 i1="01" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>38</s5>
</fC07>
<fC07 i1="02" i2="X" l="FRE"><s0>Syndrome extrapyramidal</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="02" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>39</s5>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>40</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Pathologie du système nerveux central</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>41</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>41</s5>
</fC07>
<fN21><s1>068</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
<server><NO>PASCAL 09-0094114 INIST</NO>
<ET>Genotype-Phenotype Correlates in Taiwanese Patients with Early-Onset Recessive Parkinsonism</ET>
<AU>LEE (Ming-Jen); MATA (Ignacio F.); LIN (Chin-Hsien); TZEN (Kai-Yuan); LINCOLN (Sarah J.); BOUNDS (Rebecca); LOCKHART (Paul J.); HULIHAN (Mary M.); FARRER (Matthew J.); WU (Ruey-Meei)</AU>
<AF>Department of Medical Genetics, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (1 aut.); Laboratory of Neurogenetics, Department of Neuroscience, Mayo Clinic College of Medicine/Jacksonville, Florida/Etats-Unis (2 aut., 5 aut., 6 aut., 8 aut., 9 aut.); Department of Neurology, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (3 aut., 10 aut.); Department of Nuclear Medicine, National Taiwan University Hospital and College of Medicine, National Taiwan University/Taipei/Taïwan (4 aut.); Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute/Melbourne, Victoria/Australie (7 aut.)</AF>
<DT>Publication en série; Courte communication, note brève; Niveau analytique</DT>
<SO>Movement disorders; ISSN 0885-3185; Etats-Unis; Da. 2009; Vol. 24; No. 1; Pp. 104-108; Bibl. 31 ref.</SO>
<LA>Anglais</LA>
<EA>We screened for mutations in the PARKIN, DJ-1, and PINK1 genes in a Taiwanese cohort (68 probands; 58 sporadic and 10 familial) with early-onset parkinsonism (EOP, onset <50 years of age). We identified 9 patients harboring mutations in PARKIN (three compound heterozygous and six single heterozygous carriers), 3 patients with heterozygous PINK1 mutations (including two novel substitutions M341I and P209A), and no DJ-1 mutations. Our frequencies of PARKIN (two allele mutation, 4.4%; single allele, 8.8%) and PINK1 (single heterozygous, 4.4%) mutations in Taiwanese-Chinese are similar to those in Caucasian and other Asian EOP patients. Although the role of heterozygosity of recessive genes in EOP remains to be resolved, molecular analysis and functional imaging will play a decisive role in differential diagnosis and determined therapeutic strategy.</EA>
<CC>002B17; 002B17G</CC>
<FD>Parkinsonisme; Maladie de Parkinson; Pathologie du système nerveux; Génotype; Phénotype; Homme; Parkine</FD>
<FG>Pathologie de l'encéphale; Syndrome extrapyramidal; Maladie dégénérative; Pathologie du système nerveux central</FG>
<ED>Parkinsonism; Parkinson disease; Nervous system diseases; Genotype; Phenotype; Human; Parkin</ED>
<EG>Cerebral disorder; Extrapyramidal syndrome; Degenerative disease; Central nervous system disease</EG>
<SD>Parkinson síndrome; Parkinson enfermedad; Sistema nervioso patología; Genotipo; Fenotipo; Hombre; Parkin</SD>
<LO>INIST-20953.354000186473060140</LO>
<ID>09-0094114</ID>
</server>
</inist>
</record>
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