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Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin

Résumé : Mutations in the progranulin (GRN) gene are responsible for 20% of familial cases of frontotemporal dementias. All cause haploinsufficiency of progranulin, a protein involved in inflammation, tissue repair, and cancer. Carriers of the GRN mutation are characterized by a variable degree of asymmetric brain atrophy, predominantly in the frontal, temporal, and parietal lobes. We describe 4 GRN mutation carriers with remarkable widespread white matter lesions (WML) associated with lobar atrophy shown on magnetic resonance imaging.
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https://hal.inria.fr/hal-01439037
Contributor : Olivier Colliot <>
Submitted on : Wednesday, January 18, 2017 - 11:55:36 AM
Last modification on : Friday, September 18, 2020 - 2:34:47 PM

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  • HAL Id : hal-01439037, version 1
  • PUBMED : 25317628

Citation

Paola Caroppo, Isabelle Le Ber, Agnès Camuzat, Fabienne Clot, Lionel Naccache, et al.. Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin. JAMA neurology, American Medical Association (imprimé) / 2014, 71 (12), pp.1562-6. ⟨hal-01439037⟩

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