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Expert Opinion on Medical Diagnostics Volume 1, 2007 - Issue 3
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Review

Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies

Amanda L Getty University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA +1 585 506 1972; [email protected]
,
Paul G Rothberg University of Rochester School of Medicine and Dentistry, Department of Pathology and Laboratory Medicine, Rochester, New York 14642, USA
&
David A Pearce University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA +1 585 506 1972; [email protected]; University of Rochester School of Medicine and Dentistry, Department of Biochemistry and Biophysics, Rochester, New York 14642, USA; University of Rochester School of Medicine and Dentistry, Department of Neurology, Rochester, New York 14642, USA
Pages 351-362 | Published online: 09 Nov 2007

Bibliography

  • GOEBEL HH: The neuronal ceroid-lipofuscinoses. J. Child Neurol. (1995) 10(6):424-437.
  • KOHLSCHUTTER A, GARDINER RM, GOEBEL HH: Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria, Hamburg 1992. J. Inherit. Metab. Dis. (1993) 16(2):241-244.
  • GOEBEL HH, MOLE S, LAKE BD: The neuronal ceroid lipofuscinoses (Batten disease). IOS Press, Amsterdam, The Netherlands (1999).
  • TEIXEIRA C, GUIMARAES A, BESSA C et al.: Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. J. Neurol. (2003) 250(6):661-667.
  • ELLEDER M, FRANC J, KRAUS J et al.: Neuronal ceroid lipofuscinosis in the Czech Republic: analysis of 57 cases. Report of the ‘Prague NCL group’. Eur. J. Paediatr. Neurol. (1997) 1(4):109-114.
  • SIINTOLA E, LEHESJOKI AE, MOLE SE: Molecular genetics of the NCLs – status and perspectives. Biochim. Biophys. Acta (2006) 1762(10):857-864.
  • WILLIAMS RE, ABERG L, AUTTI T et al.: Diagnosis of the neuronal ceroid lipofuscinoses: an update. Biochim. Biophys. Acta (2006) 1762(10):865-872.
  • COLLINS J, HOLDER GE, HERBERT H, ADAMS GG: Batten disease: features to facilitate early diagnosis. Br. J. Ophthalmol. (2006) 90(9):1119-1124.
  • LEMAN AR, POLOCHOCK S, MOLE SE, PEARCE DA, ROTHBERG PG: Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G > C and R208X in CLN2. J. Neurosci. Methods (2006) 157(1):124-131.
  • CABRERA-SALAZAR MA, ROSKELLEY EM, BU J et al.: Timing of therapeutic intervention determines functional and survival outcomes in a mouse model of late infantile Batten disease. Mol. Ther. (2007) 15(10):1782-1788.
  • WEIMER JM, KRISCENSKI-PERRY E, ELSHATORY Y, PEARCE DA: The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. Neuromolecular Med. (2002) 1(2):111-124.
  • HALTIA M: The neuronal ceroid-lipofuscinoses: from past to present. Biochim. Biophys. Acta (2006) 1762(10):850-856.
  • MOLE SE, WILLIAMS RE, GOEBEL HH: Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics (2005) 6(3):107-126.
  • SIINTOLA E, PARTANEN S, STROMME P et al.: Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain (2006) 129(Part 6):1438-1445.
  • STEINFELD R, REINHARDT K, SCHREIBER K et al.: Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am. J. Hum. Genet. (2006) 78(6):988-998.
  • MITCHISON HM, HOFMANN SL, BECERRA CH et al.: Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits. Hum. Mol. Genet. (1998) 7(2):291-297.
  • VESA J, HELLSTEN E, VERKRUYSE LA et al.: Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature (1995) 376(6541):584-587.
  • HOFMANN SL, DAS AK, LU JY, SOYOMBO AA: Positional candidate gene cloning of CLN1. Adv. Genet. (2001) 45:69-92.
  • SHARP JD, WHEELER RB, LAKE BD et al.: Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. Hum. Mol. Genet. (1997) 6(4):591-595.
  • SLEAT DE, DONNELLY RJ, LACKLAND H et al.: Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science (1997) 277(5333):1802-1805.
  • CONSORTIUM BD: Isolation of a novel gene underlying Batten disease, CLN3. The international Batten disease consortium. Cell (1995) 82(6):949-957.
  • MUNROE PB, MITCHISON HM, O'RAWE AM et al.: Spectrum of mutations in the Batten disease gene, CLN3. Am. J. Hum. Genet. (1997) 61(2):310-316.
  • SAVUKOSKI M, KLOCKARS T, HOLMBERG V et al.: CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis. Nat. Genet. (1998) 19(3):286-288.
  • KLOCKARS T, SAVUKOSKI M, ISOSOMPPI J, PELTONEN L: Positional cloning of the CLN5 gene defective in the Finnish variant of the LINCL. Mol. Genet. Metab. (1999) 66(4):324-328.
  • WHEELER RB, SHARP JD, SCHULTZ RA et al.: The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein. Am. J. Hum. Genet. (2002) 70(2):537-542.
  • GAO H, BOUSTANY RM, ESPINOLA JA et al.: Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am. J. Hum. Genet. (2002) 70(2):324-335.
  • SHARP JD, WHEELER RB, PARKER KA et al.: Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. Hum. Mutat. (2003) 22(1):35-42.
  • WHEELER RB, SHARP JD, MITCHELL WA et al.: A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7. Mol. Genet. Metab. (1999) 66(4):337-338.
  • SIINTOLA E, TOPCU M, AULA N et al.: The novel neuronal ceroid lipofuscinosis gene mfsd8 encodes a putative lysosomal transporter. Am. J. Hum. Genet. (2007) 81(1):136-146.
  • RANTA S, ZHANG Y, ROSS B et al.: The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat. Genet. (1999) 23(2):233-236.
  • VINES DJ, WARBURTON MJ: Classical late infantile neuronal ceroid lipofuscinosis fibroblasts are deficient in lysosomal tripeptidyl peptidase I. FEBS Lett. (1999) 443(2):131-135.
  • KWON JM, ROTHBERG PG, LEMAN AR et al.: Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. Neurosci. Lett. (2005) 387(2):111-114.
  • MOLE SE: The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol. (2004) 14(1):70-76.
  • NORMAN RW, WOOD N: Congenital form of amaurotic family idiocy. J. Neur. Psychiat. (1941) 4:175-190.
  • SALONEN T, JARVELA I, PELTONEN L, JALANKO A: Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1). Hum. Mutat. (2000) 15(3):273-279.
  • HOFMANN SL, DAS AK, YI W, LU JY, WISNIEWSKI KE: Genotype-phenotype correlations in neuronal ceroid lipofuscinosis due to palmitoyl-protein thioesterase deficiency. Mol. Genet. Metab. (1999) 66(4):234-239.
  • VOZNYI YV, KEULEMANS JL, MANCINI GM et al.: A new simple enzyme assay for pre- and postnatal diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) and its variants. J. Med. Genet. (1999) 36(6):471-474.
  • VANHANEN SL, PURANEN J, AUTTI T et al.: Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease. Neuropediatrics (2004) 35(1):27-35.
  • WELEBER RG: The dystrophic retina in multisystem disorders: the electroretinogram in neuronal ceroid lipofuscinoses. Eye (1998) 12(Part 3b):580-590.
  • LUKACS Z, SANTAVUORI P, KEIL A, STEINFELD R, KOHLSCHUTTER A: Rapid and simple assay for the determination of tripeptidyl peptidase and palmitoyl protein thioesterase activities in dried blood spots. Clin. Chem. (2003) 49(3):509-511.
  • VAN DIGGELEN OP, KEULEMANS JL, WINCHESTER B et al.: A rapid fluorogenic palmitoyl-protein thioesterase assay: pre- and postnatal diagnosis of INCL. Mol. Genet. Metab. (1999) 66(4):240-244.
  • VAN DIGGELEN OP, KEULEMANS JL, KLEIJER WJ et al.: Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2). Eur. J. Paediatr. Neurol. (2001) 5(Suppl. A):189-192.
  • DE VRIES BB, KLEIJER WJ, KEULEMANS JL et al.: First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis. Prenat. Diagn. (1999) 19(6):559-562.
  • SLEAT DE, GIN RM, SOHAR I et al.: Mutational analysis of the defective protease in classic late-infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. Am. J. Hum. Genet. (1999) 64(6):1511-1523.
  • HAINES JL, BOUSTANY RM, ALROY J et al.: Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis. Neurogenetics (1998) 1(3):217-222.
  • DAS AK, LU JY, HOFMANN SL: Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. Hum. Mol. Genet. (2001) 10(13):1431-1439.
  • LIN L, SOHAR I, LACKLAND H, LOBEL P: The human CLN2 protein/tripeptidyl-peptidase I is a serine protease that autoactivates at acidic pH. J. Biol. Chem. (2001) 276(3):2249-2255.
  • VENESELLI E, BIANCHERI R, BUONI S, FOIS A: Clinical and EEG findings in 18 cases of late infantile neuronal ceroid lipofuscinosis. Brain Dev. (2001) 23(5):306-311.
  • AUTTI T, JOENSUU R, ABERG L: Decreased T2 signal in the thalami may be a sign of lysosomal storage disease. Neuroradiology (2007) 49(7):571-578.
  • SOHAR I, SLEAT DE, JADOT M, LOBEL P: Biochemical characterization of a lysosomal protease deficient in classical late infantile neuronal ceroid lipofuscinosis (LINCL) and development of an enzyme-based assay for diagnosis and exclusion of LINCL in human specimens and animal models. J. Neurochem. (1999) 73(2):700-711.
  • BERRY-KRAVIS E, SLEAT DE, SOHAR I et al.: Prenatal testing for late infantile neuronal ceroid lipofuscinosis. Ann. Neurol. (2000) 47(2):254-257.
  • VENESELLI E, BIANCHERI R, PERRONE MV, BUONI S, FOIS A: Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases. Neurol. Sci. (2000) 21(3 Suppl.):S75-S81.
  • PHILLIPS SN, BENEDICT JW, WEIMER JM, PEARCE DA: CLN3, the protein associated with Batten disease: structure, function and localization. J. Neurosci. Res. (2005) 79(5):573-583.
  • PEARCE DA, SHERMAN F: BTN1, a yeast gene corresponding to the human gene responsible for Batten's disease, is not essential for viability, mitochondrial function, or degradation of mitochondrial ATP synthase. Yeast (1997) 13(8):691-697.
  • PEARCE DA, SHERMAN F: A yeast model for the study of Batten disease. Proc. Natl. Acad. Sci. USA (1998) 95(12):6915-6918.
  • PEARCE DA, NOSEL SA, SHERMAN F: Studies of pH regulation by Btn1p, the yeast homolog of human Cln3p. Mol. Genet. Metab. (1999) 66(4):320-323.
  • PEARCE DA, FEREA T, NOSEL SA, DAS B, SHERMAN F: Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. Nat. Genet. (1999) 22(1):55-58.
  • GOLABEK AA, KIDA E, WALUS M et al.: CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-β protein precursor and cathepsin D in human cells. Mol. Genet. Metab. (2000) 70(3):203-213.
  • PADILLA-LOPEZ S, PEARCE DA: Saccharomyces cerevisiae lacking Btn1p modulate vacuolar ATPase activity to regulate pH imbalance in the vacuole. J. Biol. Chem. (2006) 281(15):10273-10280.
  • VITIELLO SP, WOLFE DM, PEARCE DA: Absence of Btn1p in the yeast model for juvenile Batten disease may cause arginine to become toxic to yeast cells. Hum. Mol. Genet. (2007) 16(9):1007-1016.
  • RAMIREZ-MONTEALEGRE D, PEARCE DA: Defective lysosomal arginine transport in juvenile Batten disease. Hum. Mol. Genet. (2005) 14(23):3759-3773.
  • KIM Y, RAMIREZ-MONTEALEGRE D, PEARCE DA: A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease. Proc. Natl. Acad. Sci. USA (2003) 100(26):15458-15462.
  • OSORIO NS, CARVALHO A, ALMEIDA AJ et al.: Nitric oxide signaling is disrupted in the yeast model for Batten disease. Mol. Biol. Cell (2007) 18(7):2755-2767.
  • HOBERT JA, DAWSON G: A novel role of the Batten disease gene CLN3: association with BMP synthesis. Biochem. Biophys. Res. Commun. (2007) 358(1):111-116.
  • LUIRO K, YLIANNALA K, AHTIAINEN L et al.: Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. Hum. Mol. Genet. (2004) 13(23):3017-3027.
  • PURANAM K, QIAN WH, NIKBAKHT K et al.: Upregulation of Bcl-2 and elevation of ceramide in Batten disease. Neuropediatrics (1997) 28(1):37-41.
  • NARAYAN SB, RAKHEJA D, PASTOR JV et al.: Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. Mol. Genet. Metab. (2006) 88(2):178-183.
  • CAO Y, ESPINOLA JA, FOSSALE E et al.: Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J. Biol. Chem. (2006) 281(29):20483-20493.
  • LAURONEN L, MUNROE PB, JARVELA I et al.: Delayed classic and protracted phenotypes of compound heterozygous juvenile neuronal ceroid lipofuscinosis. Neurology (1999) 52(2):360-365.
  • EKSANDH LB, PONJAVIC VB, MUNROE PB et al.: Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. Ophthalmic Genet. (2000) 21(2):69-77.
  • LARSEN A, SAINIO K, ABERG L, SANTAVUORI P: Electroencephalography in juvenile neuronal ceroid lipofuscinosis: visual and quantitative analysis. Eur. J. Paediatr. Neurol. (2001) 5(Suppl. A):179-183.
  • AUTTI T, RAININKO R, SANTAVUORI P et al.: MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type. Neuroradiology (1997) 39(5):371-377.
  • NARDOCCI N, VERGA ML, BINELLI S et al.: Neuronal ceroid-lipofuscinosis: a clinical and morphological study of 19 patients. Am. J. Med. Genet. (1995) 57(2):137-141.
  • AUTTI T, RAININKO R, VANHANEN SL, SANTAVUORI P: MRI of neuronal ceroid lipofuscinosis. I. Cranial MRI of 30 patients with juvenile neuronal ceroid lipofuscinosis. Neuroradiology (1996) 38(5):476-482.
  • ROTHBERG PG, RAMIREZ-MONTEALEGRE D, FRAZIER SD, PEARCE DA: Homogeneous polymerase chain reaction nucleobase quenching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. J. Mol. Diagn. (2004) 6(3):260-263.
  • BERKOVIC SF, ANDERMANN F, ANDERMANN E, CARPENTER S, WOLFE L: Kufs disease: clinical features and forms. Am. J. Med. Genet. Suppl. (1988) 5:105-109.
  • NIJSSEN PC, CEUTERICK C, VAN DIGGELEN OP et al.: Autosomal dominant adult neuronal ceroid lipofuscinosis: a novel form of NCL with granular osmiophilic deposits without palmitoyl protein thioesterase 1 deficiency. Brain Pathol. (2003) 13(4):574-581.
  • JOSEPHSON SA, SCHMIDT RE, MILLSAP P, MCMANUS DQ, MORRIS JC: Autosomal dominant Kufs' disease: a cause of early onset dementia. J. Neurol. Sci. (2001) 188(1-2):51-60.
  • DONNET A, HABIB M, PELLISSIER JF et al.: Kufs' disease presenting as progressive dementia with late-onset generalized seizures: a clinicopathological and electrophysiological study. Epilepsia (1992) 33(1):65-74.
  • BESSA C, TEIXEIRA CA, MANGAS M et al.: Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. Mol. Genet. Metab. (2006) 89(3):245-253.
  • PINEDA-TRUJILLO N, CORNEJO W, CARRIZOSA J et al.: A CLN5 mutation causing an atypical neuronal ceroid lipofuscinosis of juvenile onset. Neurology (2005) 64(4):740-742.
  • HOLMBERG V, LAURONEN L, AUTTI T et al.: Phenotype-genotype correlation in eight patients with Finnish variant late infantile NCL (CLN5). Neurology (2000) 55(4):579-581.
  • SANTAVUORI P, RAPOLA J, NUUTILA A et al.: The spectrum of Jansky-Bielschowsky disease. Neuropediatrics (1991) 22(2):92-96.
  • AUTTI T, RAININKO R, LAUNES J, NUUTILA A, SANTAVUORI P: Jansky-Bielschowsky variant disease: CT, MRI, and SPECT findings. Pediatr. Neurol. (1992) 8(2):121-126.
  • SIINTOLA E, TOPCU M, KOHLSCHUTTER A et al.: Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin. Clin. Genet. (2005) 68(2):167-173.
  • TEIXEIRA CA, ESPINOLA J, HUO L et al.: Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis. Hum. Mutat. (2003) 21(5):502-508.
  • ZHONG N, MOROZIEWICZ DN, JU W et al.: Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. Genet. Med. (2000) 2(6):312-318.
  • LAKE BD, CAVANAGH NP: Early-juvenile Batten's disease – a recognisable sub-group distinct from other forms of Batten's disease. Analysis of 5 patients. J. Neurol. Sci. (1978) 36(2):265-271.
  • TYYNELA J, SUOPANKI J, SANTAVUORI P, BAUMANN M, HALTIA M: Variant late infantile neuronal ceroid-lipofuscinosis: pathology and biochemistry. J. Neuropathol. Exp. Neurol. (1997) 56(4):369-375.
  • RANTA S, LEHESJOKI AE, DE FATIMA BONALDO M et al.: High-resolution mapping and transcript identification at the progressive epilepsy with mental retardation locus on chromosome 8p. Genome Res. (1997) 7(9):887-896.
  • HERVA R, TYYNELA J, HIRVASNIEMI A, SYRJAKALLIO-YLITALO M, HALTIA M: Northern epilepsy: a novel form of neuronal ceroid-lipofuscinosis. Brain Pathol. (2000) 10(2):215-222.
  • CANNELLI N, CASSANDRINI D, BERTINI E et al.: Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean. Neurogenetics (2006) 7(2):111-117.
  • RANTA S, TOPCU M, TEGELBERG S et al.: Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum. Mutat. (2004) 23(4):300-305.
  • HIRVASNIEMI A, LANG H, LEHESJOKI AE, LEISTI J: Northern epilepsy syndrome: an inherited childhood onset epilepsy with associated mental deterioration. J. Med. Genet. (1994) 31(3):177-182.
  • KOHAN R, DE HALAC IN, TAPIA ANZOLINI V et al.: Palmitoyl protein thioesterase1 (PPT1) and tripeptidyl peptidase-I (TPP-I) are expressed in the human saliva. A reliable and non-invasive source for the diagnosis of infantile (CLN1) and late infantile (CLN2) neuronal ceroid lipofuscinoses. Clin. Biochem. (2005) 38(5):492-494.
  • CAMP LA HS: Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras. J. Biol. Chem. (1993) 268(30):22566-22574.
  • CHO S DG: Enzymatic and molecular biological analysis of palmitoyl-protein thioesterase deficiency in infantile neuronal ceroid lipofuscinosis. J. Neurochem. (1998) 71:323-329.
  • MANIATIS N, COLLINS A, GIBSON J et al.: Positional cloning by linkage disequilibrium. Am. J. Hum. Genet. (2004) 74(5):846-855.
  • MORTON NE: Linkage disequilibrium maps and association mapping. J. Clin. Invest. (2005) 115(6):1425-1430.
  • LANDER ES, BOTSTEIN D: Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science (1987) 236(4808):1567-1570.
  • CROCKETT AO, WITTWER CT: Fluorescein-labeled oligonucleotides for real-time pcr: using the inherent quenching of deoxyguanosine nucleotides. Anal. Biochem. (2001) 290(1):89-97.
  • ANDERSON GW, SMITH VV, BROOKE I, MALONE M, SEBIRE NJ: Diagnosis of neuronal ceroid lipofuscinosis (Batten disease) by electron microscopy in peripheral blood specimens. Ultrastruct. Pathol. (2006) 30(5):373-378.
  • STRIANO P, SPECCHIO N, BIANCHERI R et al.: Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations. Epilepsy Behav. (2007) 10(1):187-191.
  • POET M, KORNAK U, SCHWEIZER M et al.: Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6. Proc. Natl. Acad. Sci. USA (2006) 103(37):13854-13859.
  • VAN DIGGELEN OP, THOBOIS S, TILIKETE C et al.: Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann. Neurol. (2001) 50(2):269-272.
  • RAMADAN H, AL-DIN AS, ISMAIL A et al.: Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology (2007) 68(5):387-388.
  • DAS AK, BECERRA CH, YI W et al.: Molecular genetics of palmitoyl-protein thioesterase deficiency in the US. J. Clin. Invest. (1998) 102(2):361-370.
  • WISNIEWSKI KE, KACZMARSKI A, KIDA E et al.: Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. Mol. Genet. Metab. (1999) 66(4):248-252.

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