Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease.
Identifieur interne : 002524 ( Main/Merge ); précédent : 002523; suivant : 002525Deletion of the progranulin gene in patients with frontotemporal lobar degeneration or Parkinson disease.
Auteurs : Anne Rovelet-Lecrux [France] ; Vincent Deramecourt ; Solenn Legallic ; Claude-Alain Maurage ; Isabelle Le Ber ; Alexis Brice ; Jean-Charles Lambert ; Thierry Frébourg ; Didier Hannequin ; Florence Pasquier ; Dominique CampionSource :
- Neurobiology of disease [ 1095-953X ] ; 2008.
English descriptors
- KwdEn :
- MESH :
- chemical , genetics : Intercellular Signaling Peptides and Proteins.
- genetics : Dementia, Parkinson Disease.
- pathology : Brain, Dementia, Parkinson Disease.
- Aged, Gene Deletion, Humans, Middle Aged, Neuropsychological Tests, Pedigree, Polymerase Chain Reaction.
Abstract
Progranulin gene (PGRN) mutations cause ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17 (FTLDU-17). The spectrum of known mutations strongly suggests that neurodegeneration results from a partial loss of PGRN function and leads to the hypothesis that PGRN gene deletions could be present in a subset of patients. We analysed 63 unrelated French patients with frontotemporal lobar degeneration (FTLD) for PGRN gene dosage alteration by quantitative multiplex PCR of short fluorescent fragments (QMPSF). We identified in one patient with typical PGRN neuropathology a near complete deletion, removing exons 1-11, of the PGRN gene. This deletion, which resulted from a nonhomologous recombination event, was equally present in one affected sister presenting with Parkinson disease (PD). This observation provides a final argument that PGRN mutations exert their pathogenic effect through haploinsufficiency and underlines the diversity of clinical presentations associated with these PGRN alterations.
DOI: 10.1016/j.nbd.2008.03.004
PubMed: 18479928
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pubmed:18479928Le document en format XML
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Aged</term><term>Neuropsychological Tests</term><term>Pedigree</term><term>Polymerase Chain Reaction</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Progranulin gene (PGRN) mutations cause ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17 (FTLDU-17). The spectrum of known mutations strongly suggests that neurodegeneration results from a partial loss of PGRN function and leads to the hypothesis that PGRN gene deletions could be present in a subset of patients. We analysed 63 unrelated French patients with frontotemporal lobar degeneration (FTLD) for PGRN gene dosage alteration by quantitative multiplex PCR of short fluorescent fragments (QMPSF). We identified in one patient with typical PGRN neuropathology a near complete deletion, removing exons 1-11, of the PGRN gene. This deletion, which resulted from a nonhomologous recombination event, was equally present in one affected sister presenting with Parkinson disease (PD). This observation provides a final argument that PGRN mutations exert their pathogenic effect through haploinsufficiency and underlines the diversity of clinical presentations associated with these PGRN alterations.</div></front></TEI></record>Pour manipuler ce document sous Unix (Dilib)
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