Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
Identifieur interne : 000905 ( PascalFrancis/Curation ); précédent : 000904; suivant : 000906Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations
Auteurs : Lianna Ishihara [Royaume-Uni] ; Liling Warren [Royaume-Uni] ; Rachel Gibson [Royaume-Uni] ; Rim Amouri [Tunisie] ; Suzanne Lesage [France] ; Alexandra Durr [France] ; Meriem Tazir [Algérie] ; Zbigniew K. Wszolek [États-Unis] ; Ryan J. Uitti [États-Unis] ; William C. Nichols [États-Unis] ; Alida Griffith [États-Unis] ; Nobutaka Hattori [Japon] ; David Leppert [Royaume-Uni] ; Ray Watts [États-Unis] ; Cyrus P. Zabetian [États-Unis] ; Tatiana M. Foroud [États-Unis] ; Matthew J. Farrer [États-Unis] ; Alexis Brice [France] ; Lefkos Middleton [Royaume-Uni] ; Faycal Hentati [Tunisie]Source :
- Archives of neurology : (Chicago) [ 0003-9942 ] ; 2006.
Descripteurs français
- Pascal (Inist)
- Wicri :
- topic : Homme.
English descriptors
- KwdEn :
Abstract
Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a">Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations</title>
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<country>États-Unis</country>
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<series><title level="j" type="main">Archives of neurology : (Chicago)</title>
<title level="j" type="abbreviated">Arch. neurol. : (Chic.)</title>
<idno type="ISSN">0003-9942</idno>
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<front><div type="abstract" xml:lang="en">Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.</div>
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<fA08 i1="01" i2="1" l="ENG"><s1>Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations</s1>
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<sZ>8 aut.</sZ>
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<sZ>16 aut.</sZ>
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<fA14 i1="18"><s1>Department of Neuroscience, Mayo Clinic Jacksonville</s1>
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<fC01 i1="01" l="ENG"><s0>Background: The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD). Objectives: To report the clinical characteristics of PD patients with homozygous LRRK 6055>A (G2019S) mutations and to compare them with previously published descriptions of heterozygous patients. Design: Descriptive clinical report from an international consortium of studies. Subjects: Patients with familial PD and homozygous LRRK2 mutations included 23 Tunisians, 2 Algerians, 2 US patients, 1 Canadian, and 1 Moroccan. Results: There wer no observable differences between the homozygote and heterozygote phenotypes. Conclusions: Parkinson disease related to LRRK2 is characterized by typical clinical features, and the similarities between patients with homozygous and heterozygous mutations do not support a gene dosage effect.</s0>
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<s2>FE</s2>
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<fC07 i1="02" i2="X" l="SPA"><s0>Enzima</s0>
<s2>FE</s2>
</fC07>
<fC07 i1="03" i2="X" l="FRE"><s0>Encéphale pathologie</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="ENG"><s0>Cerebral disorder</s0>
<s5>37</s5>
</fC07>
<fC07 i1="03" i2="X" l="SPA"><s0>Encéfalo patología</s0>
<s5>37</s5>
</fC07>
<fC07 i1="04" i2="X" l="FRE"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="ENG"><s0>Extrapyramidal syndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="04" i2="X" l="SPA"><s0>Extrapiramidal síndrome</s0>
<s5>38</s5>
</fC07>
<fC07 i1="05" i2="X" l="FRE"><s0>Maladie dégénérative</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="ENG"><s0>Degenerative disease</s0>
<s5>39</s5>
</fC07>
<fC07 i1="05" i2="X" l="SPA"><s0>Enfermedad degenerativa</s0>
<s5>39</s5>
</fC07>
<fC07 i1="06" i2="X" l="FRE"><s0>Système nerveux central pathologie</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="ENG"><s0>Central nervous system disease</s0>
<s5>40</s5>
</fC07>
<fC07 i1="06" i2="X" l="SPA"><s0>Sistema nervosio central patología</s0>
<s5>40</s5>
</fC07>
<fN21><s1>296</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
</record>
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