title: Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2).
abstract: The recent development of simple, fluorogenic enzyme assays for infantile and late infantile neuronal ceroid lipofuscinosis (INCL and LINCL; CLN1 and CLN2) has greatly facilitated the diagnostic process for these diseases. In leucocytes and fibroblasts from INCL (n = 38) patients we found profound deficiencies of palmitoyl-protein thioesterase I (PPT1), the residual activity was < 5% of mean control activity. In fibroblasts from LINCL patients we found a similar deficiency of tripeptidyl-peptidase I activity (TPP-I), with < 2% activity in 16 patients. The residual TPP-I activity in leucocytes from LINCL patients seemed substantially higher. We also showed the feasibility of reliable prenatal enzyme analysis. In five first-trimester and two second-trimester prenatal analyses for INCL, four affected foetuses were detected (PPT activity 3-6%). Two first trimester pregnancies at risk for LINCL were analysed and a clear TPP-I deficiency was detected in both cases (TPP-I activity 3-4%). The first patient with adult neuronal ceroid lipofuscinosis (ANCL) due to a deficiency of PPT is presented; her present age is 53 years and the onset of the disease was at 38 years with psychiatric symptoms.
authors.affiliation: Department of Clinical Genetics, Erasmus University, PO Box 1738, 3000 DR Rotterdam, The Netherlands. vandiggelen@kgen.fgg.eur.nl
authors.forename: O P
authors.initials: OP
authors.lastname: Van Diggelen
authors.forename: J L
authors.initials: JL
authors.lastname: Keulemans
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
authors.forename: S
authors.initials: S
authors.lastname: Thobois
authors.forename: C
authors.initials: C
authors.lastname: Tilikete
authors.forename: Y V
authors.initials: YV
authors.lastname: Voznyi
mesh_terms: D000328:Adult; D000626:Aminopeptidases; D002478:Cells, Cultured; D015193:Chorionic Villi Sampling; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases / Q000172:deficiency* / Q000378:metabolism; D005260:Female; D005347:Fibroblasts / Q000166:cytology / Q000201:enzymology; D006801:Humans; D007962:Leukocytes / Q000201:enzymology; D008875:Middle Aged; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000201:enzymology*; D011247:Pregnancy; D057057:Serine Proteases; D013869:Thiolester Hydrolases / Q000172:deficiency* / Q000378:metabolism; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D013869:Thiolester Hydrolases; C095299:palmitoyl-protein thioesterase; D010450:Endopeptidases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human