Gene Symbol CLN1/PPT1
Gene ID 5538
Chromosomal Location 1p32
Genomic RefSeqGene NG_009192.1 31761 bp
Transcript NM_000310.3 2504 bp
Protein RefSeq NP_000301.1 306 aa
No patients 220
No. families 167
Additional notes
Pa-cln1.01 Patient ID2 Allele 1 nt (aa) Allele 2 nt (aa) Changes in same gene Changes in other genes Phenotype Age at onset Histology Country of origin Country of Residence Reference PMID Notes
Pa-cln1.062 1465_Das_1998 p.Arg122Trp p.Val181Met INCL 3mo GROD Swedish / Norwegian USA/Canada Das et al., 1998 9664077
Pa-cln1.063 1694_Das_1998 p.Arg151X p.Arg164X INCL 6mo GROD Penn Dutch Alsatian USA/Canada Das et al., 1998 9664077
Pa-cln1.064 1474_Das_1998 p.Leu10X p.Leu10X INCL 6mo GROD Greek / Irish USA/Canada Das et al., 1998 9664077
Pa-cln1.065 1547_Das_1998 p.Arg151X p.Arg151X INCL 8mo GROD German USA/Canada Das et al., 1998 9664077
Pa-cln1.066 5_Das 1998_Das_1998 p.Arg151X p.Arg151X INCL 8mo GROD German / English/ Polish USA/Canada Das et al., 1998 9664077
Pa-cln1.067 1019_Das_1998 p.Met133ArgfsX4 p.Arg151X INCL 8mo GROD Scottish / Irish / English / German / Swedish USA/Canada Das et al., 1998 9664077
Pa-cln1.068 1461_Das_1998 p.Arg151X p.Arg151X INCL 12mo GROD Swedish / Dutch USA/Canada Das et al., 1998 9664077
Pa-cln1.069 1676_Das_1998 p.Arg151X p.Arg151X INCL 12mo GROD German / Welsh / Native American / Italian USA/Canada Das et al., 1998 9664077
Pa-cln1.070 9_Das 1998 p.Arg151X p.Arg151X INCL 12mo GROD German / Welsh / Cherok / Italian USA/Canada Das et al., 1998 9664077
Pa-cln1.071 1196_Das_1998 p.Gly42Glu / splice defect p.Arg122Trp INCL 12mo GROD Swedish / Norwegian USA/Canada Das et al., 1998 9664077
Pa-cln1.072 1652_Das_1998 p.His39Gln p.Arg151X INCL 12mo GROD Irish / Welsh / English / German / Norwegian USA/Canada Das et al., 1998 9664077
Pa-cln1.073 1725_Das_1998 p.Arg151X c.727-2A>T INCL 12mo GROD Welsh / English / German / Dutch USA/Canada Das et al., 1998 9664077
Pa-cln1.074 1674_Das_1998 p.Arg122Trp p.Glu184Lys INCL n.a. GROD Irish / English / Swedish USA/Canada Das et al., 1998 9664077
Pa-cln1.075 1601_Das_1998 p.Leu10X p.Tyr109Asp INCL 18mo GROD Norwegian / Canadian / Cherokee USA/Canada Das et al., 1998 9664077
Pa-cln1.076 1031_Das_1998 p.Arg151X p.Arg151X LINCL 18mo GROD Scottish / Irish / English / German USA/Canada Das et al., 1998 9664077 LINCL despite age at onset because had a sib that presented at 24mo
Pa-cln1.077 1112_Das_1998 p.Arg151X p.Val181Met LINCL 18mo GROD / CV German / Irish USA/Canada Das et al., 1998 9664077 LINCL because had GROD inclusions
Pa-cln1.078 1576_Das_1998 p.Arg164X not found LINCL 18mo GROD Arab / Moroccan USA/Canada Das et al., 1998 9664077 2nd allele not found despite excessive investigation across PPT1_LINCL despite age at onset because had a sib that presented at 24mo
Pa-cln1.079 1005_Das_1998 Inefficient initiation (p.Met1?) p.Tyr109Asp LINCL 3.5yr GROD Scottish / German / Irish USA/Canada Das et al., 1998 9664077
Pa-cln1.080 1639_Das_1998 p.Gln177Glu p.Trp296X LINCL 3.5yr GROD English USA/Canada Das et al., 1998 9664077 LINCL because had seizures as presenting symptom
Pa-cln1.081 1400_Das_1998 c.3G>A, Inefficient initiation (p.Met1?) p.Tyr247His JNCL 5yr GROD German / Native American USA/Canada Das et al., 1998 9664077
Pa-cln1.082 1523_Das_1998 p.Arg151X p.Gly250Val JNCL 5yr GROD German USA/Canada Das et al., 1998 9664077
Pa-cln1.083 1162_Das_1998 p.Thr75Pro p.Arg151X JNCL 5yr GROD / CV / FP French Canadian / Irish USA/Canada Das et al., 1998 9664077
Pa-cln1.084 1428_Das_1998 p.Thr75Pro p.Arg151X JNCL 6yr GROD / CV Norwegian / German / Irish / English USA/Canada Das et al., 1998 9664077
Pa-cln1.085 1553_Das_1998 p.Thr75Pro p.Arg151X JNCL 6yr GROD Scottish / Irish / English / French / French Canadian USA/Canada Das et al., 1998 9664077
Pa-cln1.086 1210_Das_1998 p.Thr75Pro p.Arg151X JNCL 7yr GROD / CV / FP Scottish / Irish / German / Hungarian USA/Canada Das et al., 1998 9664077
Pa-cln1.087 1321_Das_1998 p.Thr75Pro p.Val181Met JNCL 7yr GROD / CV / FP German / Irish USA/Canada Das et al., 1998 9664077
Pa-cln1.088 1419_Das_1998 p.Thr75Pro p.Tyr215SerfsX5 JNCL 7yr GROD / CV / FP n.a. USA/Canada Das et al., 1998 9664077
Pa-cln1.089 1418_Das_1998 p.Asp79Gly p.Arg151X JNCL 7.5yr GROD English / Hispanic USA/Canada Das et al., 1998 9664077
Pa-cln1.090 1357_Das_1998 p.Thr75Pro p.Thr75Pro JNCL 7.5yr GROD Scottish USA/Canada Das et al., 1998 9664077 very mild clinical course
Pa-cln1.048 28_II1_Mitchison_1998 p.Thr75Pro p.Arg151X     vJNCL 6yr GROD England   Mitchison et al., 1998 9425237 Siblings
Pa-cln1.049 28_II2_Mitchison_1998 p.Thr75Pro p.Arg151X     vJNCL 8yr GROD England   Mitchison et al., 1998 9425237  
Pa-cln1.050 54_II2_Mitchison_1998 p.Thr75Pro p.Arg151X vJNCL 7yr GROD Newfoundland Mitchison et al., 1998 9425237 Siblings
Pa-cln1.051 54_II3_Mitchison_1998 p.Thr75Pro p.Arg151X vJNCL 7yr GROD Newfoundland Mitchison et al., 1998 9425237  
Pa-cln1.052 54_II4_Mitchison_1998 p.Thr75Pro p.Arg151X     vJNCL 7yr GROD Newfoundland   Mitchison et al., 1998 9425237  
Pa-cln1.053 56_II1_Mitchison_1998 p.Thr75Pro p.Thr75Pro     vJNCL 7yr GROD USA   Mitchison et al., 1998 9425237 Siblings
Pa-cln1.054 56_II2_Mitchison_1998 p.Thr75Pro p.Thr75Pro     vJNCL 8yr GROD USA   Mitchison et al., 1998 9425237  
Pa-cln1.055 105_II2_Mitchison_1998 p.Thr75Pro p.Arg151X vJNCL 10yr GROD Scotland Mitchison et al., 1998 9425237
Pa-cln1.056 173_II2_Mitchison_1998 p.Leu219Gln p.Arg151X vJNCL 10yr GROD Belgium Mitchison et al., 1998 9425237
Pa-cln1.057 208_II3_Mitchison_1998 p.Asp79Gly p.Arg151X vJNCL 7yr GROD USA Mitchison et al., 1998 9425237
Pa-cln1.058 325_II1_Mitchison_1998 p.Thr75Pro p.Leu10X vJNCL 7yr GROD Scotland Mitchison et al., 1998 9425237
Pa-cln1.059 341_II2_Mitchison_1998 p.Thr75Pro p.Arg151X vJNCL 7yr GROD Scotland Mitchison et al., 1998 9425237
Pa-cln1.060 345_II2_Mitchison_1998 p.Thr75Pro p.Leu10X vJNCL 7yr GROD Scotland Mitchison et al., 1998 9425237
Pa-cln1.061 346_II1_Mitchison_1998 p.Thr75Pro p.Arg151X vJNCL 7yr GROD Scotland Mitchison et al., 1998 9425237
Pa-cln1.091 389_Munroe_1998 p.Arg151X p.Arg151X INCL n.d. n.d. Scotland Munroe et al., 1998 9733046
Pa-cln1.092 390_Munroe_1998 p.Arg151X p.Lys55X INCL n.d. n.d. Scotland Munroe et al., 1998 9733046
Pa-cln1.093 391_Munroe_1998 p.Arg151X p.Leu10X INCL n.d. n.d. Scotland Munroe et al., 1998 9733046
Pa-cln1.094 392_Munroe_1998 p.Leu10X p.Leu10X INCL n.d. n.d. Scotland Munroe et al., 1998 9733046
Pa-cln1.124 SFT_Kousi_2009 p.Trp38Cys p.Trp38Cys n.a. n.a. n.a. Turkey Kousi et al., 2009 19201763
Pa-cln1.096 1_Salonen_2000 p.Met57AsnfsX45 p.Met57AsnfsX45 INCL 18mo CL Turkey Salonen et al., 2000 10679943
Pa-cln1.097 2_Salonen_2000 p.Glu59ArgfsX12 p.Arg151X INCL 12mo GROD England Salonen et al., 2000 10679943
Pa-cln1.098 3_Salonen_2000 c.125-2A>G c.125-2A>G INCL 12mo GROD Turkey Salonen et al., 2000 10679943
Pa-cln1.099 4_Salonen_2000 p.Gln259ThrfsX36 not found INCL 10mo GROD France Salonen et al., 2000 10679943 2nd allele not found by sequencing
Pa-cln1.100 5_Salonen_2000 p.Cys46dup p.Cys46dup INCL 8mo GROD Afro-Caribbean / Asian Salonen et al., 2000 10679943
Pa-cln1.101 6_Salonen_2000 p.Glu184Lys p.Glu184Lys INCL 12mo GROD Turkey Salonen et al., 2000 10679943
Pa-cln1.102 7_Salonen_2000 p.Arg151X p.Arg151X INCL 14mo GROD Austria Salonen et al., 2000 10679943
Pa-cln1.103 8_Salonen_2000 p.Arg151X p.Arg151X INCL n.a. n.a. USA Salonen et al., 2000 10679943
Pa-cln1.104 9_Salonen_2000 p.Arg151X p.Arg151X INCL 12mo GROD England Salonen et al., 2000 10679943 Maternal Uniparental disomy
Pa-cln1.105 10_Salonen_2000 p.Ser83_Phe84delinsSer c.628-1G>T INCL 18mo GROD English / Irish / German Salonen et al., 2000 10679943
Pa-cln1.106 11_Salonen_2000 p.Cys152X not found INCL n.a. n.a. Japan Salonen et al., 2000 10679943 2nd allele not found by sequencing
Pa-cln1.125 1_Simonati_2009 p.Leu222Pro p.Leu222Pro LINCL 2yr GROD Italy Simonati et al., 2009 19302939
Pa-cln1.126 2_Simonati_2009 p.Leu222Pro p.Leu222Pro LINCL 3yr GROD (FP) Italy Simonati et al., 2009 19302939
Pa-cln1.127 3_Simonati_2009 p.Leu222Pro p.Leu222Pro LINCL 4yr GROD Italy Simonati et al., 2009 19302939
Pa-cln1.128 4_Simonati_2009 p.Val181Lys c.124+1214del3.6kb LINCL 3yr GROD (FP) Italy Simonati et al., 2009 19302939
Pa-cln1.119 1_Bonsignore_2006 or 5_Simonati_2009 c.125-15T>G c.125-15T>G     LINCL 2yr GROD Italy   Bonsignore et al., 2006 16759889 Sibs.  aberrant splicing confirmed (LINCL phenotype - but towards the severe spectrum)
Pa-cln1.120 2_Bonsignore_2006 or 6_Simonati_2009 c.125-15T>G c.125-15T>G     LINCL 2.5yr GROD Italy   Bonsignore et al., 2006 16759889 aberrant splicing confirmed (LINCL phenotype - but towards the severe spectrum)
Pa-cln1.121 1_Bi_2006 c.124+1G>A p.Glu184Lys INCL <1yr n.a. China Bi et al., 2006 17044973
Pa-cln1.122 2_Bi_2006 p.Gln91Pro p.Gln91Pro INCL <1yr n.a. China Bi et al., 2006 17044973
Pa-cln1.123 1_Ramadan_2007 p.Arg151X p.Cys45Tyr c.362+61C>T ANCL 24yr GROD England Ramadan et al., 2007 17261688 p.Cys45Tyr shows residual activity thought to be responsible for the late-onset
Pa-cln1.001 1_Vesa_1995 p.Arg122Trp p.Arg122Trp     INCL n.a. n.a. Finland   Vesa et al., 1995 7637805 Founder effect
Pa-cln1.002 2_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.003 3_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.004 4_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.005 5_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.006 6_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.007 7_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.008 8_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.009 9_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.010 10_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.011 11_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.012 12_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.013 13_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.014 14_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.015 15_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.016 16_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.017 17_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.018 18_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.019 19_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.020 20_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.021 21_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.022 22_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.023 23_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.024 24_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.025 25_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.026 26_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.027 27_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.028 28_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.029 29_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.030 30_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.031 31_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.032 32_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.033 33_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.034 34_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.035 35_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.036 36_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.037 37_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.038 38_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.039 39_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.040 40_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Finland Vesa et al., 1995 7637805  
Pa-cln1.041 41_Vesa_1995 p.Arg122Trp null allele INCL n.a. n.a. Finland Vesa et al., 1995 7637805 the existense of a null allele was confirmed by amplification from genomic DNA and cDNA but it is not specified in the report
Pa-cln1.042 42_Vesa_1995 p.Arg122Trp null allele     INCL n.a. n.a. Finland   Vesa et al., 1995 7637805 the existense of a null allele was confirmed by amplification from genomic DNA and cDNA but it is not specified in the report
Pa-cln1.043 43_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Germany Vesa et al., 1995 7637805
Pa-cln1.044 44_Vesa_1995 p.Arg122Trp p.Arg122Trp INCL n.a. n.a. Estonia Vesa et al., 1995 7637805
Pa-cln1.045 45_Vesa_1995 p.Arg122Trp n.d. INCL n.a. n.a. Germany Vesa et al., 1995 7637805
Pa-cln1.046 46_Vesa_1995 p.Arg122Trp n.d. INCL n.a. n.a. Sweden Vesa et al., 1995 7637805
Pa-cln1.047 47_Vesa_1995 p.Lys55X n.d INCL n.a. n.a. UK Vesa et al., 1995 7637805
Pa-cln1.095 1_Santorelli_1998 p.Met57AsnfsX45 p.Met57AsnfsX45 INCL 12mo GROD Italy Santorelli et al., 1998 9571187
Pa-cln1.107 1_Waliany_2000 p.Arg151X p.Arg151X INCL 12mo GROD Hispanic USA Waliany et al., 2000 10649502
Pa-cln1.108 1528_Waliany_2000 p.Gly118Asp p.Arg151X INCL 12mo GROD Irish / Norwegian USA Waliany et al., 2000 10649502
Pa-cln1.109 1778_Waliany_2000 p.Arg164X p.Gln291X INCL 15mo GROD African-American USA Waliany et al., 2000 10649502
Pa-cln1.110 1780_Waliany_2000 p.Arg151X p.Met57AsnfsX45 INCL 18mo GROD Swedish / German USA Waliany et al., 2000 10649502
Pa-cln1.111 1781_Waliany_2000 p.Ser83_Phe84delinsSer p.Gln177Glu LINCL 3yr GROD German USA Waliany et al., 2000 10649502
Pa-cln1.112 1761_Waliany_2000 p.Arg151X p.Gln177Glu LINCL 3.2yr GROD n.a. USA Waliany et al., 2000 10649502
Pa-cln1.113 1755_Waliany_2000 p.Thr75Pro p.Val181Met JNCL 5yr GROD German / Irish / Scottish / British USA Waliany et al., 2000 10649502
Pa-cln1.114 1778_Waliany_2000 p.Thr75Pro p.Thr75Pro JNCL 8yr GROD Irish / German / Welsh / Scottish / British USA Waliany et al., 2000 10649502
Pa-cln1.115 1_van Diggelen_2001 p.Arg151X p.Gly108Arg ANCL 31yr GROD France van Diggelen et al., 2001 11506414
Pa-cln1.116 2_van Diggelen_2001 p.Arg151X p.Gly108Arg ANCL 38yr n.d. (sister has GROD) van Diggelen et al., 2001 11506414
Pa-cln1.129 1HL_Kohan_2009 p.Arg151X c.363-3T>G JNCL 6yr GROD Brazil Kohan et al., 2009 19793312
Pa-cln1.130 1_Klviinen_2007 p.Arg122Trp p.Cys152Tyr JNCL 6yr not performed Finland Klviinen et al., 2007 17388982
Pa-cln1.117 1_Mazzei_2002 p.Leu222Pro p.Leu222Pro vJNCL/GROD 4yr GROD Italy Mazzei et al., 2002 12382155
Pa-cln1.118 1_Teixeira_2003 p.Val181Met p.Val181Met INCL 8 mo GROD Portugal Teixeira et al., 2003b 12796825
Pa-cln1.131 1_Mueler_2010 c.536+1G>A c.536+1G>A LINCL 3yr n.a. USA Mueller and Coovadia, 2010 21491624
Pa-cln1.132 2a_Prez-Poyato_2011 p.Val181Leu p.Val181Leu     vJNCL 3yr n.a. Spain   Prez-Poyato et al., 2011 21499717 Sibs
Pa-cln1.133 2b_Prez-Poyato_2011 p.Val181Leu p.Val181Leu     vJNCL/GROD 4yr GROD / CV / RL Spain   Prez-Poyato et al., 2011 21499717  
Pa-cln1.134 4a_Prez-Poyato_2011 p.Val181Leu p.Val181Leu     vJNCL/GROD 2yr GROD Spain   Prez-Poyato et al., 2011 21499717 Sibs
Pa-cln1.135 4b_Prez-Poyato_2011 p.Val181Leu p.Val181Leu vJNCL/GROD 4yr GROD Spain Prez-Poyato et al., 2011 21499717  
Pa-cln1.136 4c_Prez-Poyato_2011 p.Val181Leu p.Val181Leu vJNCL 3yr n.a. Spain Prez-Poyato et al., 2011 21499717  
Pa-cln1.137 4d_Prez-Poyato_2011 p.Val181Leu p.Val181Leu vJNCL 4yr n.a. Spain Prez-Poyato et al., 2011 21499717  
Pa-cln1.138 4e_Prez-Poyato_2011 p.Val181Leu p.Val181Leu     vJNCL 2yr n.a. Spain   Prez-Poyato et al., 2011 21499717  
Pa-cln1.139 5_Prez-Poyato_2011 p.Val181Leu p.Val181Leu vJNCL/GROD 4yr GROD (FP) Spain Prez-Poyato et al., 2011 21499717
Pa-cln1.140 6_Prez-Poyato_2011 p.Val181Leu p.Val181Leu vJNCL 6yr n.a. Spain Prez-Poyato et al., 2011 21499717
Pa-cln1.141 N8003_Kousi_2011_novel p.Trp38Cys p.Trp38Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.142 N12503_Kousi_2011_novel p.Trp38Cys p.Trp38Cys n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.143 N4103_Kousi_2011_novel c.363-4G>A c.363-4G>A n.a. 3.5yr n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.144 N10903_Kousi_2011_novel c.363-4G>A not identified n.a. 2yr n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.145 N10904_Kousi_2011_novel c.363-4G>A not identified n.a. 3yr n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.146 N5303_Kousi_2011_novel p.Ile134Thr not identified     INCL 5mo n.a. Turkey   Kousi et al., 2012 21990111 Sibs
Pa-cln1.147 N5304_Kousi_2011_novel p.Ile134Thr not identified     INCL 5mo n.a. Turkey   Kousi et al., 2012 21990111  
Pa-cln1.148 N8603_Kousi_2011_novel p.Ser138Leu p.Ser138Leu n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.149 N13203_Kousi_2011_novel p.Leu180ProfsX9 p.Leu180ProfsX9 INCL 6mo n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.150 N7803_Kousi_2011_novel p.Pro189Arg p.Pro189Arg n.a. n.a. n.a. Turkey Kousi et al., 2012 21990111
Pa-cln1.151 BAR1_Kousi_2011_novel p.Val181Met p.Val181Met n.a. n.a. n.a. Spain Kousi et al., 2012 21990111
Pa-cln1.152 BAR2_Kousi_2011_novel p.Val181Met p.Val181Met n.a. n.a. n.a. Spain Kousi et al., 2012 21990111
Pa-cln1.153 BAR3_Kousi_2011_novel p.Val181Met p.Val181Met n.a. n.a. n.a. Spain Kousi et al., 2012 21990111
Pa-cln1.154 US1_Kousi_2011_novel p.Arg122Trp p.Arg151X n.a. n.a. n.a. USA Kousi et al., 2012 21990111
Pa-cln1.155 US2_Kousi_2011_novel p.Met57AsnfsX45 p.Met57AsnfsX45 n.a. n.a. n.a. USA Kousi et al., 2012 21990111
Pa-cln1.156 US3_Kousi_2011_novel p.Met57AsnfsX45 p.Met57AsnfsX45 n.a. n.a. n.a. USA Kousi et al., 2012 21990111
Pa-cln1.157 US4_Kousi_2011_novel p.Met57AsnfsX45 p.Met57AsnfsX45 n.a. n.a. n.a. USA Kousi et al., 2012 21990111
Pa-cln1.158 ITA1_Kousi_2011_novel c.235-3T>C p.Val181Met     JNCL n.a GROD (FP) Italy   Kousi et al., 2012 21990111 Sibs
Pa-cln1.159 ITA2_Kousi_2011_novel c.235-3T>C p.Val181Met     JNCL n.a GROD (FP) Italy   Kousi et al., 2012 21990111  
Pa-cln1.160 31680_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.161 31478_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.162 31679_Kousi_2011_novel p.Arg151X p.Gln177Glu n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.163 33424_Kousi_2011_novel p.Arg151X p.Leu10X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.164 25892_Kousi_2011_novel p.Trp296Arg p.Trp296Arg n.a. n.a. n.a. UK Kousi et al., 2012 (Loughlin pers comm) 21990111
Pa-cln1.165 15996_Kousi_2011_novel p.Val181Met p.Arg122Trp n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.166 31678_Kousi_2011_novel p.Trp38X p.Trp38X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.167 13126_Kousi_2011_novel p.Cys46dup p.Cys46dup n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.168 38126_1_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.169 38126_2_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.170 38355_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2011 21990111
Pa-cln1.171 44859_Kousi_2011_novel p.Arg151X p.Leu10X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.172 44936_Kousi_2011_novel p.His187Arg p.Leu10X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.173 46782_Kousi_2011_novel p.Arg151X p.Leu10X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.174 46571_Kousi_2011_novel p.Arg151X p.Cys45Tyr n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.175 52988_Kousi_2011_novel p.Met57AsnfsX45 p.Met57AsnfsX45 n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.176 54166_Kousi_2011_novel p.Arg151X p.Cys96Tyr n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.177 53329_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.178 60353_Kousi_2011_novel p.Trp186X p.Trp186X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.179 62556_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.180 63776_Kousi_2011_novel p.Val181Met p.Val181Met n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.181 71154_Kousi_2011_novel c.536+2T>C c.536+2T>C n.a. n.a. n.a. UK (Arabic/Iran) Kousi et al., 2012, Williams pers comm to NCL Mutation database 21990111
Pa-cln1.182 70958_Kousi_2011_novel p.Arg151X p.Trp38CysfsX12 n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.183 78748_Kousi_2011_novel p.Arg151X p.Tyr109Asp n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.184 80756_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.185 82864_Kousi_2011_novel p.Arg151X p.Gln177Glu n.a. n.a. n.a. UK Kousi et al., 2012 21990111
Pa-cln1.186 LUMC005_Kousi_2011_novel p.Gly108Arg p.Arg151X n.a. n.a n.a. The Netherlands Kousi et al., 2012 21990111
Pa-cln1.187 LUMC031_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a n.a. The Netherlands Kousi et al., 2012 21990111
Pa-cln1.188 LUMC032_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a n.a. Finland Kousi et al., 2012 21990111
Pa-cln1.189 LUMC033_Kousi_2011_novel p.Arg151X p.Arg151X n.a. n.a n.a. n.a. Kousi et al., 2012 21990111
Pa-cln1.190 LUMC006_Kousi_2011_novel p.Arg122Trp p.Val181Met n.a. n.a n.a. Finland Kousi et al., 2012 21990111
Pa-cln1.191 LUMC007_Kousi_2011_novel p.Arg122Trp p.Cys152Tyr n.a. n.a n.a. Sweden Kousi et al., 2012 21990111
Pa-cln1.192 LUMC008_Kousi_2011_novel p.Gln91_Cys96delinsPhe p.Gln91_Cys96delinsPhe n.a. n.a n.a. Turkey Kousi et al., 2012                                          Mole et al., 2001 21990111
Pa-cln1.193 LUMC009_Kousi_2011_novel p.Arg164X p.Arg151X n.a. n.a n.a. The Netherlands Kousi et al., 2012 21990111
Pa-cln1.194 LUMC010_Kousi_2011_novel p.Val228Gly p.Arg151X n.a. n.a n.a. The Netherlands Kousi et al., 2012 21990111
Pa-cln1.195 LUMC011_Kousi_2011_novel p.Arg122Trp p.Leu305Pro n.a. n.a n.a. Finland Kousi et al., 2012 21990111
Pa-cln1.196 RAY1_Kousi_2011_novel p.Thr75Pro p.Thr75Pro n.a. n.a n.a. Canada Kousi et al., 2012 21990111
Pa-cln1.197 RAY3_Kousi_2011_novel p.Arg151X p.Leu10X n.a. n.a n.a. Canada Kousi et al., 2012 21990111
Pa-cln1.198 RAY4_Kousi_2011_novel p.Arg151X p.Thr75Pro n.a. n.a n.a. Canada Kousi et al., 2012 21990111
Pa-cln1.199 RAY9_Kousi_2011_novel p.Arg151X p.Val181Met n.a. n.a n.a. Canada Kousi et al., 2012 21990111
Pa-cln1.200 RAY28_Kousi_2011_novel p.Arg151X p.Thr75Pro n.a. n.a n.a. Canada Kousi et al., 2012 21990111
Pa-cln1.201 RAY50_Kousi_2011_novel p.Ile134Thr c.627+4A>G n.a. n.a n.a. Canada Kousi et al., 2012 21990111
Pa-cln1.202 RAY54_Kousi_2011_novel p.Ile134Thr not identified n.a. n.a n.a. Canada Kousi et al., 2012 21990111
Pa-cln1.203 DAT1_Kousi_2011_novel p.Met57AsnfsX45 n.a. n.a. n.a n.a. Russia Kousi et al., 2012 (Burkina personal communication to NCL database) 21990111
Pa-cln1.204 5_Mole_2001 p.Ser83_Phe84delinsSer INCL Germany Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Taschner pers comm) 11589012
Pa-cln1.205 7_Mole_2001 p.Cys96Tyr JNCL The Netherlands Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Taschner pers comm) 11589012
Pa-cln1.206 8_Mole_2001 p.Lys104X INCL UK Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Taschner pers comm) 11589012
Pa-cln1.207 11_Mole_2001 p.Gln182X INCL The Netherlands Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Taschner pers comm) 11589012
Pa-cln1.208 13_Mole_2001 p.Phe225Ser INCL USA Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Yi and Hofmann pers comm) 11589012
Pa-cln1.209 12_Mole_2001 c.628-1G>T INCL USA Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Taschner pers comm) 11589012
Pa-cln1.210 1_Mole_2001 g.1--109C>A n.a. The Netherlands Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Taschner pers comm) 11589012
Pa-cln1.211 16_Mole_2001 c.921+526_529delATCA n.a. France Mole et al.  Eur J Paed Neurol 5 (Suppl A):7-10  200 (Taschner pers comm) 11589012
Pa-cln1.212 1_Trzupek c.312delA p.Val181Met INCL English/Czech Karmen Trzupek pers comm to NCL Mutation Database 2004 N.A
Pa-cln1.213 1_Burkina p.Arg151X INCL Russia A Burkina pers comm to NCL Mutation Database 2004 N.A
Pa-cln1.214 1_Niezen p.Arg151X INCL The Netherlands R. Nietzen-de Boer pers comm to NCL Mutation Database 2004 N.A
Pa-cln1.215 1_Taschner p.Glu184Lys   INCL Belgium Taschner pers comm to NCL Mutation Database N.A
Pa-cln1.216 3_Setty_2013 p.Cys96Tyr  p.Arg151X 8y GROD UK Kahn et al 2013; J. Pediatr NeurosciSetty et al. J. Pediatr Neurosci. 2013 24082928 reported twice
Pa-cln1.217 Miller_2013 p.Glu260LysfsX35 p.Tyr247His JNCL 10y USA USA Miller & Pearce J Child Neuro.  2013 25205113
Pa-cln1.218 Pa3_Prez-Poyato_2012 pVal181Met pVal181Met     INCL 14mo n.d Spain Spain Prez-Poyato et al., Gene 2012 22387303
Pa-cln1.219 Pa4_Prez-Poyato_2012 pVal181Met pVal181Met     INCL 13mo GROD Spain Spain Prez-Poyato et al., Gene 2012 22387303
Pa-cln1.220 Pa6_Prez-Poyato_2012 p.Glu178Val p.Ser241Leu INCL 12mo n.d. Spain Spain Prez-Poyato et al., Gene 2012 22387303
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