Exome sequencing reveals a novel partial deletion in the progranulin gene causing primary progressive aphasia

[...]as with other neurodegenerative diseases, this case shows that focal brain atrophy precedes symptom onset in genetically determined forms of FTD; rates of atrophy may therefore be useful outcome measures for presymptomatic therapeutic trials in these disorders.

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Bibliographic Details
Published inJournal of neurology, neurosurgery and psychiatry Vol. 84; no. 12; pp. 1411 - 1412
Main Authors Rohrer, Jonathan D, Beck, Jonathan, Plagnol, Vincent, Gordon, Elizabeth, Lashley, Tammaryn, Revesz, Tamas, Janssen, John C, Fox, Nick C, Warren, Jason D, Rossor, Martin N, Mead, Simon, Schott, Jonathan M
Format Journal Article
LanguageEnglish
Published England BMJ Publishing Group Ltd 01.12.2013
BMJ Publishing Group LTD
BMJ Publishing Group
SeriesLetter
Subjects
Aphasia, Primary Progressive - genetics
Brain research
Dementia
Deoxyribonucleic acid
DNA
Exome - genetics
Family medical history
Gene Deletion
Genes
Genetic Predisposition to Disease
Humans
Intercellular Signaling Peptides and Proteins - genetics
Male
Medical research
Mutation
Pathology
PostScript
Progranulins
Studies
Dementia
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Summary:[...]as with other neurodegenerative diseases, this case shows that focal brain atrophy precedes symptom onset in genetically determined forms of FTD; rates of atrophy may therefore be useful outcome measures for presymptomatic therapeutic trials in these disorders.
Bibliography:local:jnnp;84/12/1411
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ark:/67375/NVC-CNT8VDGT-8
PMID:23904625
ArticleID:jnnp-2013-306116
href:jnnp-84-1411.pdf
ISSN:0022-3050
1468-330X
DOI:10.1136/jnnp-2013-306116