Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia Mutated CTSF in adult-onset neuronal ceroid.

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Date of download: 9/17/2016 Copyright © 2016 American Medical Association. All rights reserved. From: Three Families With Amyotrophic Lateral Sclerosis.

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Figure 1 Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and patients with frontotemporal dementia (A) Pedigree of the recessive adult-onset neuronal ceroid lipofuscinosis (ANCL) Belgian family. The index patient or propositus (case II-2) is indicated by an arrow. Participants whose exomes were sequenced are indicated with an asterisk. Current age, age at onset in case of patients, and age at death are indicated in years. (B) Haplotype segregation in the ANCL pedigree. CTSF p.Ile404Thr carrier status and phased haplotypes using CTSF flanking short tandem repeat (STR) markers are shown. The green haplotype indicates the maternal disease haplotype; yellow haplotype indicates the paternal inherited disease haplotype. The blue and pink haplotypes carry the wild-type allele. (C) Cathepsin F (CTSF) protein with present and reported4,5CTSF mutations associated with recessive ANCL. Mutations are mapped to the primary structure of the CTSF protein indicating known functional domains. CTSF p.Ile404Thr homozygous mutation identified in the Belgian family is indicated in red. CTSF p.Arg245His heterozygote mutation identified in 2 Belgian patients with frontotemporal dementia (FTD) is indicated in green. Reported mutations are in black. Subscripts a and b indicate reported compound heterozygous mutation pairs. (D) Sequence alignment of identified CTSF p.Arg245His and p.Ile404Thr mutations showing evolutionary conservation across species. Julie van der Zee et al. Neurol Genet 2016;2:e102 © 2016 American Academy of Neurology