Gene Symbol CTSF
Gene ID 8722
Chromosomal Location 11q13
Genomic RefSeqGene NG_032973.1 12113 bp
Transcript RefSeq NM_003793.3 2032 bp
Protein RefSeq NP_003784.2 484 aa
No. patients 15
No. families 9
DB Patient ID Other Patient ID Allele 1 Allele 2 Nucleotide changes in same gene Nucleotide changes in other genes NCL Phenotype or other disease Age at onset (y) Histology Country of origin Country of residence Other ethnicity information Reference PMID Notes
Pa-ctsf.001 Ku4_II-3_Smith_2013 p.(Gly458Ala) p.(Ser480Leu)     Kufs B 20   Italy     Smith et al., Hum Mol Genet. 2013 23297359 Siblings
Pa-ctsf.002 Ku4_II-2_Smith_2013 p.(Gly458Ala) p.(Ser480Leu)     Kufs B 32   Italy     Smith et al., Hum Mol Genet. 2013 23297359  
Pa-ctsf.003 Ku10_II-1_Smith_2013 p.(Gln321Arg) p.(Gln321Arg) Kufs B 24 Canada (French) Smith et al., Hum Mol Genet. 2013 23297359
Pa-ctsf.004 Ku16_II-2_Smiith_2013 p.(Tyr231Cys) p.(Ser319Leufs*27) Kufs B Australia Smith et al., Hum Mol Genet. 2013 23297359
Pa-ctsf.005 IV-3_Fabio_2014 c.213+1G>C c.213+1G>C     Kufs B 23 GROD Italy Italy   Fabio et al. Neurology 2014 25274848 Extended family
Pa-ctsf.006 III-5_Fabio_2014 c.213+1G>C c.213+1G>C Kufs B GROD Italy Italy Fabio et al. Neurology 2014 25274848 apparently dominant but actually recessive
Pa-ctsf.007 V-1_Fabio_2014 c.213+1G>C c.213+1G>C     Kufs B   n.d. Italy Italy   Fabio et al. Neurology 2014 25274848  
Pa-ctsf.008   p.(Gly415Arg) p.(Gly415Arg)     Early onset Alzheimer's 58   Morocco Israel   Bras et al. Neurobiol Aging (2016) 27524508 Cosanguineous parents; patient had long runs of homozygosity. One other affected sibling
Pa-ctsf-009 II-1 p.(Ile404Thr ) p.(Ile404Thr)  Kufs 35 Belgium van der Zee et al. Neurol Genet (2016) 27668283 Myoclonic seizures, followed by extrapyramidal signs and  cognitive disturbances
Pa-ctsf-010 II-2 p.(Ile404Thr) p.(Ile404Thr)  Kufs 26 Belgium van der Zee et al. Neurol Genet (2016) 27668283 speech difficulties; cortical-subcortical atrophy
Pa-ctsf-011 II-3 p.(Ile404Thr)  p.(Ile404Thr)  Kufs 30 Belgium van der Zee et al. Neurol Genet (2016) 27668283 Progressive behavioural, cognitive and affective disturbances; severe dementia
Pa-ctsf-012 II-5 p.(Ile404Thr)  p.(Ile404Thr)  Kufs 50 Belgium van der Zee et al. Neurol Genet (2016) 27668283 tremor, speech problems, slowness; cortical-subcortical atrophy, ventricular cyst
Pa-ctsf-013   p.(Arg245His) wildtype     Frontotemporal dementia 65     Belgium   van der Zee Neurol Genet (2016) 27668283 STR genotyping suggests common founder
Pa-ctsf-014   p.(Arg245His) wildtype     Frontotemporal dementia 76     Belgium   van der Zee Neurol Genet (2016) 27668283 STR genotyping suggests common founder
Pa-ctsf-015 II:1 p.(Cys326Phe) p.(Ser139*)     Kufs B 30   China China   Wang et al Int J Neurosci (2017) 29120254 Early onset dementia; mood and motor disturbances. No skin biopsy abnormalities
                             
Notes
C around birth,  infantile (6-18 mo)I, LI late infantile (2-4 yr), vLI (varaint late infantile), J Juvenile (5-10 yr), A Adult 
GROD - Granular Osmiophilic Deposits, CL - Curvilinear, RL- Rectilinear, FP - Fingerprint, condensed
Last updated 04-Dec-17