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16 results on '"Gómez-Esteban, Juan C."'

4. Lrrk2 R1441G-related Parkinson’s disease: evidence of a common founding event in the seventh century in Northern Spain

Author

Mata, Ignacio F., Hutter, Carolyn M., González-Fernández, María C., de Pancorbo, Marian M., Lezcano, Elena, Huerta, Cecilia, Blazquez, Marta, Ribacoba, Renee, Guisasola, Luis M., Salvador, Carlos, Gómez-Esteban, Juan C., Zarranz, Juan J., Infante, Jon, Jankovic, Joseph, Deng, Hao, Edwards, Karen L., Alvarez, Victoria, and Zabetian, Cyrus P.

Published
2009
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13. The new mutation, E46K, of α‐synuclein causes parkinson and Lewy body dementia

Author

Zarranz, Juan J., primary, Alegre, Javier, additional, Gómez‐Esteban, Juan C., additional, Lezcano, Elena, additional, Ros, Raquel, additional, Ampuero, Israel, additional, Vidal, Lídice, additional, Hoenicka, Janet, additional, Rodriguez, Olga, additional, Atarés, Begoña, additional, Llorens, Verónica, additional, Tortosa, Estrella Gomez, additional, del Ser, Teodoro, additional, Muñoz, David G., additional, and de Yebenes, Justo G., additional

Published
2003
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14. The new mutation, E46K, of α-synuclein causes parkinson and Lewy body dementia

Author

Zarranz, Juan J., Alegre, Javier, Gómez-Esteban, Juan C., Lezcano, Elena, Ros, Raquel, Ampuero, Israel, Vidal, Lídice, Hoenicka, Janet, Rodriguez, Olga, Atarés, Begoña, Llorens, Verónica, Tortosa, Estrella Gomez, Ser, Teodoro del, and Muñoz, David G.

Abstract

Familial parkinsonism and dementia with cortical and subcortical Lewy bodies is uncommon, and no genetic defect has been reported in the previously described sibships. We present a Spanish family with autosomal dominant parkinsonism, dementia, and visual hallucinations of variable severity. The postmortem examination showed atrophy of the substantia nigra, lack of Alzheimer pathology, and numerous Lewy bodies which were immunoreactive to α-synuclein and ubiquitin in cortical and subcortical areas. Sequencing of the α-synuclein gene showed a novel, nonconservative E46K mutation in heterozygosis. The E46K mutation was present in all affected family members and in three young asymptomatic subjects, but it was absent in healthy and pathological controls. The novel mutation, that substitutes a dicarboxylic amino acid, glutamic acid, with a basic amino acid such as lysine in a much conserved area of the protein, is likely to produce severe disturbance of protein function. Our data show that, in addition to the previously described hereditary α-synucleinopathies, dementia with Lewy bodies is related to mutation of α-synuclein.

Published
2004
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16. The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.

Author

Zarranz JJ, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I, Vidal L, Hoenicka J, Rodriguez O, Atarés B, Llorens V, Gomez Tortosa E, del Ser T, Muñoz DG, and de Yebenes JG

Subjects
Aged, Amino Acid Sequence, Base Sequence, DNA Mutational Analysis, DNA Primers, Female, Humans, Immunohistochemistry, Lewy Bodies pathology, Male, Middle Aged, Molecular Sequence Data, Mutation, Nerve Degeneration pathology, Parkinson Disease pathology, Pedigree, Polymerase Chain Reaction, Sequence Homology, Synucleins, Tomography, Emission-Computed, Single-Photon, alpha-Synuclein, Brain pathology, Lewy Body Disease genetics, Nerve Tissue Proteins genetics, Parkinson Disease genetics
Abstract

Familial parkinsonism and dementia with cortical and subcortical Lewy bodies is uncommon, and no genetic defect has been reported in the previously described sibships. We present a Spanish family with autosomal dominant parkinsonism, dementia, and visual hallucinations of variable severity. The postmortem examination showed atrophy of the substantia nigra, lack of Alzheimer pathology, and numerous Lewy bodies which were immunoreactive to alpha-synuclein and ubiquitin in cortical and subcortical areas. Sequencing of the alpha-synuclein gene showed a novel, nonconservative E46K mutation in heterozygosis. The E46K mutation was present in all affected family members and in three young asymptomatic subjects, but it was absent in healthy and pathological controls. The novel mutation, that substitutes a dicarboxylic amino acid, glutamic acid, with a basic amino acid such as lysine in a much conserved area of the protein, is likely to produce severe disturbance of protein function. Our data show that, in addition to the previously described hereditary alpha-synucleinopathies, dementia with Lewy bodies is related to mutation of alpha-synuclein.

Published
2004
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