Infantile neuronal ceroid lipofuscinosis: Follow-up on a Spanish series

Gene

Volumn 499, Issue 2, 2012, Pages 297-302

  Pérez Poyato, Maria Socorro ^a   Milá Recansens, Montserrat ^b,c   Ferrer Abizanda, Isidre ^d   Domingo Jiménez, Rosario ^e   López Lafuente, Amparo ^f   Cusí Sánchez, Victoria ^a   Rodriguez Revenga, Laia ^b,c   Coll Rosell, M Josep ^b,c,g   Gort, Laura ^b,c,g   Póo Argüelles, Pilar ^a   Pineda Marfa, Mercé ^a,b  

^a HOSPITAL SANT JOAN DE DÉU   (Spain)

^b INSTITUTO DE SALUD CARLOS III   (Spain)

^c UNIVERSITY OF BARCELONA   (Spain)

^d HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^e HOSPITAL UNIVERSITARIO VIRGEN DE LA ARRIXACA   (Spain)

^f HOSPITAL SAN PEDRO DE ALCÁNTARA   (Spain)

^g HOSPITAL CLÍNIC   (Spain)

Author keywords

CLN1 PPT gene; Follow up; Infantile neuronal ceroid lipofuscinosis

Indexed keywords

CLOBAZAM; CLONAZEPAM; ETIRACETAM; GABAPENTIN; LAMOTRIGINE; PHENOBARBITAL; TOPIRAMATE; VALPROIC ACID;

ARTICLE; BLINDNESS; CHILD (1-12); DISEASE COURSE; DISEASE SEVERITY; EPILEPSY; FEMALE; FOCAL EPILEPSY; FOLLOW UP; GRAND MAL SEIZURE; HUMAN; HUMAN TISSUE; INFANT DISEASE; MALE; MENTAL DETERIORATION; MOTOR DYSFUNCTION; MUTATION; MYOCLONUS; NEURONAL CEROID LIPOFUSCINOSIS; NEURONAL CEROID LIPOFUSCINOSIS INFANTILE FINNISH TYPE; PHENOTYPE; PRESCHOOL CHILD (1-6); PRIORITY JOURNAL; SCHOOL CHILD (7-12); TONIC CLONIC SEIZURE;

BRAIN; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; FEMALE; FOLLOW-UP STUDIES; HUMANS; MALE; NEURONAL CEROID-LIPOFUSCINOSES; THIOLESTER HYDROLASES;

EID: 84860231647     PISSN: 03781119     EISSN: 18790038     Source Type: Journal    
DOI: 10.1016/j.gene.2012.02.013     Document Type: Article

References (36)

1. Arsenio-Nunes M.L., Goutieres F. An ultramicroscopic study of the skin in the diagnosis of the infantile and late infantile types of ceroid-lipofuscinosis. J. Neurol. Neurosurg. Psychiatry 1975, 38:994-999.
2. Baumann R.J., Markesbery W.R. Santavuori disease: diagnosis by leukocyte ultrastructure. Neurology 1982, 32:1277-1281.
3. Bonsignore M., et al. Novel CLN1 mutation in two Italian sibs with late infantile neuronal ceroid lipofuscinosis. Eur. J. Paediatr. Neurol. 2006, 10:154-156.
4. Cardona F., Rosati E. Neuronal ceroid-lipofuscinoses in Italy: an epidemiological study. Am. J. Med. Genet. 1995, 57:142-143.
5. Cooper J.D., Russell C., Mitchison H.M. Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. Biochim. Biophys. Acta 2006, 1762:873-889.
6. Das A.K., et al. Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S. J. Clin. Invest. 1998, 102:361-370.
7. Das A.K., Lu J.Y., Hofmann S.L. Biochemical analysis of mutations in palmitoyl-protein thioesterase causing infantile and late-onset forms of neuronal ceroid lipofuscinosis. Hum. Mol. Genet. 2001, 10:1431-1439.
8. Goebel H.H., Mole S.E., Lake B.D. The neuronal ceroid lipofuscinosis (Batten disease). NCL in different European countries 1999, 128-142. On behalf of the European Concerted Action Group, Amsterdam. I.O.S. Press (Ed.).
9. Goebel H.H., Sharp J.D. The neuronal ceroid-lipofuscinoses. Recent advances. Brain Pathol. 1998, 8:151-162.
10. Haltia M. The neuronal ceroid-lipofuscinoses. J. Neuropathol. Exp. Neurol. 2003, 62:1-13.
11. Jarvela I., et al. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1. Genomics 1991, 9:170-173.
12. Kohan R., et al. An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients. Clin. Genet. 2009, 76:372-382.
13. Lowry O.H., Rosebrough N.J., Farr A.L., Randall R.J. Protein measurement with the Folin phenol reagent. J. Biol. Chem. 1951, 193:265-275.
14. Mole S.E., Williams R.E., Goebel H.H. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 2005, 6:107-126.
15. Oishi K., Ida H., Kurosawa K., Eto Y. Clinical and molecular analysis of Japanese patients with neuronal ceroid lipofuscinosis. Mol. Genet. Metab. 1999, 66:344-348.
16. Perez-Poyato M.S., et al. Juvenile neuronal ceroid lipofuscinosis: clinical course and genetic studies in Spanish patients. J. Inherit. Metab. Dis. 2011, 34:1083-1093.
17. Rapola J., Haltia M. Cytoplasmic inclusions in the vermiform appendix and skeletal muscle in two types of so-called neuronal ceroid-lipofuscinosis. Brain 1973, 96:833-840.
18. Santavuori P. Neuronal ceroid-lipofuscinoses in childhood. Brain Dev. 1988, 10:80-83.
19. Santavuori P., Haltia M., Rapola J. Infantile type of so-called neuronal ceroid-lipofuscinosis. Dev. Med. Child Neurol. 1974, 16:644-653.
20. Santavuori P., Haltia M., Rapola J., Raitta C. Infantile type of so-called neuronal ceroid-lipofuscinosis. 1. A clinical study of 15 patients. J. Neurol. Sci. 1973, 18:257-267.
21. Santavuori P., Lauronen L., Kirveskari K., Aberg L., Sainio K. Neuronal ceroid lipofuscinoses in childhood. Suppl. Clin. Neurophysiol. 2000, 53:443-451.
22. Santavuori P., Raininko R., Vanhanen S.L., Launes J., Sainio K. MRI of the brain, EEG sleep spindles and SPECT in the early diagnosis of infantile neuronal ceroid lipofuscinosis. Dev. Med. Child Neurol. 1992, 34:61-65.
23. Santorelli F.M., et al. A novel insertion mutation (A169i) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient. Biochem. Biophys. Res. Commun. 1998, 245:519-522.
24. Simonati A., et al. Variant late infantile neuronal ceroid lipofuscinosis because of CLN1 mutations. Pediatr. Neurol. 2009, 40:271-276.
25. Takano K., et al. Infantile neuronal ceroid lipofuscinosis: the first reported case in Japan diagnosed by palmitoyl-protein thioesterase enzyme activity deficiency. Brain Dev. 2008, 30:370-373.
26. Teixeira C., et al. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. J. Neurol. 2003, 250:661-667.
27. Topcu M., et al. Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies. Turk. J. Pediatr. 2004, 46:1-10.
28. Uvebrant P., Hagberg B. Neuronal ceroid lipofuscinoses in Scandinavia. Epidemiology and clinical pictures. Neuropediatrics 1997, 28:6-8.
29. Vanhanen S.L., et al. Neuroradiological findings (MRS, MRI, SPECT) in infantile neuronal ceroid-lipofuscinosis (infantile CLN1) at different stages of the disease. Neuropediatrics 2004, 35:27-35.
30. Vanhanen S.L., Raininko R., Autti T., Santavuori P. MRI evaluation of the brain in infantile neuronal ceroid-lipofuscinosis. Part 2: MRI findings in 21 patients. J. Child Neurol. 1995, 10:444-450.
31. Vanhanen S.L., Sainio K., Lappi M., Santavuori P. EEG and evoked potentials in infantile neuronal ceroid-lipofuscinosis. Dev. Med. Child Neurol. 1997, 39:456-463.
32. Veneselli E., Biancheri R., Perrone M.V., Buoni S., Fois A. Neuronal ceroid lipofuscinoses: clinical and EEG findings in a large study of Italian cases. Neurol. Sci. 2000, 21:S75-S81.
33. Vesa J., et al. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995, 376:584-587.
34. Waliany S., Das A.K., Gaben A., Wisniewski K.E., Hofmann S.L. Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis. Hum. Mutat. 2000, 15:206-207.
35. Wisniewski K.E., Kida E., Connell F., Zhong N. Neuronal ceroid lipofuscinoses: research update. Neurol. Sci. 2000, 21:S49-S56.
36. Worgall S., et al. Neurological deterioration in late infantile neuronal ceroid lipofuscinosis. Neurology 2007, 69:521-535.