Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

van der Zee, Julie; Mariën, Peter; Crols, R; Van Mossevelde, Sara; Dillen, Lubina; Perrone, Federica; Engelborghs, Sebastiaan; Verhoeven, Jo; D’aes, Tine; Ceuterick‐de Groote, Chantal; Sieben, Anne; Versijpt, Jan; Cras, Patrick; Martin, Jean‐Jacques; Van Broeckhoven, Christine

doi:10.1212/nxg.0000000000000102

Public

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD

Published in Neurology Genetics • Sep 17, 2016

Authors:

Julie van der Zee

Peter Mariën

R Crols

Abstract

OBJECTIVE: To investigate the molecular basis of a Belgian family with autosomal recessive adult-onset neuronal ceroid lipofuscinosis (ANCL or Kufs disease [KD]) with pronounced frontal lobe involvement and to expand the findings to a cohort of unrelated Belgian patients with frontotemporal dementia...

Subject

Frontotemporal dementia

Cohort

Epilepsy

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