Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutation

Brain

Volumn 130, Issue 4, 2007, Pages 1050-1061

  Mihaylova, Violeta ^a   Hantke, Janina ^b   Sinigerska, Ivanka ^a   Cherninkova, Silvia ^a   Raicheva, Margarita ^a   Bouwer, Sonja ^b   Tincheva, Radka ^a   Khuyomdziev, Djako ^c   Bertranpetit, Jaume ^d   Chandler, David ^b   Angelicheva, Dora ^b   Kremensky, Ivo ^a   Seeman, Pavel ^e   Tournev, Ivailo ^a   Kalaydjieva, Luba ^b,f  

^a MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

^b UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^c Regional Hospital Pazardjik   (Bulgaria)

^d UNIVERSITAT POMPEU FABRA   (Spain)

^e CHARLES UNIVERSITY   (Czech Republic)

^f PATHWEST LABORATORY MEDICINE   (Australia)

Author keywords

Gypsy founder mutation; Intermediate Niemann Pick disease; Neurological manifestations

Indexed keywords

SPHINGOMYELIN PHOSPHODIESTERASE;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; BRAIN DAMAGE; CHILD; CLINICAL ARTICLE; COGNITIVE DEFECT; CONTROLLED STUDY; ENZYME DEFICIENCY; ENZYME REPLACEMENT; ETHNICITY; FEMALE; GENE; GENE MUTATION; GIPSY; HEREDITY; HUMAN; HUMAN TISSUE; INFANT; MALE; MENTAL DISEASE; NEUROLOGIC DISEASE; NIEMANN PICK DISEASE; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; RELATIVE; RETINA DISEASE; SPHINGOMYELIN PHOSPHODIESTERASE 1 GENE; CENTRAL NERVOUS SYSTEM DISEASE; ELECTROENCEPHALOGRAPHY; ETHNOLOGY; FAMILY HEALTH; FLUORESCENCE ANGIOGRAPHY; GENETICS; GENOTYPE; METHODOLOGY; MUTATION; ONSET AGE; PATHOLOGY; PERIPHERAL NEUROPATHY; PRESCHOOL CHILD; RETINA MACULA LUTEA;

ADOLESCENT; ADULT; AGE OF ONSET; BASE SEQUENCE; CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHILD, PRESCHOOL; COGNITION DISORDERS; ELECTROENCEPHALOGRAPHY; FAMILY HEALTH; FEMALE; FLUORESCEIN ANGIOGRAPHY; GENOTYPE; HUMANS; INFANT; MACULA LUTEA; MALE; MENTAL DISORDERS; MUTATION; NIEMANN-PICK DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; PHENOTYPE; SPHINGOMYELIN PHOSPHODIESTERASE;

EID: 34249652902     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/awm026     Document Type: Article

References (36)

1. Angelicheva D, Calafell F, Savov A, Jordanova A, Kufardjieva A, Galeva I, et al. Cystic fibrosis mutations and associated haplotypes in Bulgaria: a comparative population genetic study. Hum Genet 1997; 99: 513-20.
2. Brinkman J, Wijburg FA, Hollak CE, Groener JE, Verboek M, Scheij S, et al. Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease. J Inherit Metab Dis 2005; 28: 13-20.
3. Dipple KM, McCabe ERB. Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and system dynamics. Am J Hum Genet 2000a; 66: 1729-35.
4. Dipple KM, McCabe ERB. Modifier genes convert "simple" Mendelian disorders to complex traits. Mol Genet Metab 2000b; 71: 43-50.
5. Dubois G, Mussini J-M, Auclair M, Battesti J, Boutry J-M, Kemeny J-L, et al. Adult sphingomyelinase deficiency: report of 2 patients who initially presented with psychiatric disorders. Neurology 1990; 40: 132-6.
6. Elleder M, Cihula J. Niemann-Pick disease (variation in the sphingomyelinase deficient group). Eur J Pediatr 1983; 140: 323-8.
7. Elleder M, Nevoral J, Spicakova V, Hyniova H, Kraus J, Krasny J, et al. A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesions and low in-vivo degradation rate of sphingomyelin. J Inher Metab Dis 1986; 9: 357-66.
8. Ferlinz K, Hurwitz R, Weiler M, Suzuki K, Sandhoff K, Vanier M. Molecular analysis of the acid sphingomyelinase deficiency in a family with an intermediate form of Niemann-Pick disease. Am J Hum Genet 1995; 56: 1343-9.
9. Gal AE, Brady RO, Hibbert SR, Pentchev PG. A practical chromogenic procedure for the detection of homozygotes and heterozygous carriers of Niemann-Pick disease. N Engl J Med 1975; 293: 632-6.
10. Guo Y, He W, Boer AM, Wevers RA, de Bruijn AM, Groener JE, et al. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis 1995; 18: 717-22.
11. Harzer K, Rolfs A, Bauer P, Zschiesche M, Mengel E, Backes J, et al. Niemann-Pick disease disease types A and B are clinically but also enzymatically heterogeneous: pitfall in the laboratory diagnosis of sphingomyelinase deficiency associated with the mutation Q292K. Neuropediatrics 2003; 34: 301-6.
12. Horinouchi K, Erlich S, Perl DP, Ferlinz K, Bisgaier CL, Sandhoff K, et al. Acid sphingomyelinase deficient mice: a model of types A and B Niemann-Pick disease. Nat Genet 1995; 10: 288-93.
13. Kalaydjieva L, Morar B, Chaix R, Tang H. A newly discovered founder population: the Roma/Gypsies. BioEssays 2005; 27: 1084-94.
14. Kanfer JN, Young OM, Shapiro D, Brady RO. The metabolism of sphingomyelin. I. Purification and properties of a sphingomyelincleaving enzyme from rat liver tissue. J Biol Chem 1966; 241: 1081-4.
15. Khuyomdziev D, Boboshevski L. A contribution to the study of Niemann-Pick disease, a family investigation. Pediatria 1979; 18: 382-91 [in Bulgarian].
16. Kolesnik R. The therapeutic potential of modulating the ceramide/sphingomyelin pathway. J Clin Invest 2002; 110: 3-8.
17. Li L, Caggana M, Robinowitz J, Shabeer J, Desnick RJ, Eng CM. Prenatal screening in the Ashkenazi Jewish population: a pilot program of multiple option testing for five disorders. Am J Hum Genet 1997; Suppl 61: A24.
18. Matthews JD, Weiter JJ, Kolodny EH. Macular halos associated with Niemann-Pick type B disease. Ophthalmology 1986; 93: 933-7.
19. McGovern MM, Wasserstein MP, Aron A, Desnick RJ, Schuchman EH, Brodie SE. Ocular manifestations of Niemann-Pick disease type B. Ophthalmology 2004; 111: 1424-7.
20. Pavlu-Pereira H, Asfaw B, Poupetova H, Ledvinova J, Sikora J, Vanier M, et al. Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study. J Inherit Metab Dis 2005; 28: 203-27.
21. Réthy LA. Growth regulation, acid sphingomyelinase gene and genomic imprinting: lessons from an experiment of nature. Pathol Oncol Res 2000; 6: 298-300.
22. Saidi P, Azizi SP, Sarlati R, Sayar N. Rare variant of lipid storage disorders. Blood 1970; 35: 533-8.
23. Schuchman EH, Desnick RJ. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, et al. editors. The metabolic basis of inherited disease. 8th edn. New York, NY: McGraw-Hill; 2001. p. 3589-610.
24. Schuchman EH, Suchi M, Takahashi T, Sandhoff K, Desnick R. Human acid sphingomyelinase. Isolation, nucleotide sequence and expression of the full-length and alternatively spliced cDNAs. J Biol Chem 1991; 266: 8531-9.
25. Schuchman EH, Levran O, Pereira LV, Desnick RJ. Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 1992; 12: 197-205.
26. Scriver CR and Waters PJ. Monogenic traits are not simple: lessons from phenylketonuria. Trends Genet 1999; 15: 267-72.
27. Shah MD, Desai AP, Jain MK, Kulkarni V, Patel P, Waradkar AM, et al. Niemann-Pick disease type B with oculoneural involvement. Indian Pediatr 1983; 20: 521-2.
28. Simonaro CM, Desnick RJ, McGovern MM, Wasserstein MP, Schuchman EH. The demographics and distribution of type B Niemann-Pick disease: novel mutations lead to new genotype/phenotype correlations. Am J Hum Genet 2002; 71: 1413-9.
29. Simonaro CM, Park J-H, Eliyahu E, Shtraizent N, McGovern MM, Schuchman EH. Imprinting at the SMPD1 locus: implications for acid sphingomyelinase- deficient Niemann-Pick disease. Am J Hum Genet 2006; 78: 865-70.
30. Sinigerska I, Chandler D, Vaghjiani V, Hassanova I, Gooding R, Morrone A, et al. Founder mutation causing infantile GM1-gangliosidosis in the Gypsy population. Mol Genet Metab 2006; 88: 93-5.
31. Sperl W, Bart G, Vanier M, Christomanou H, Baldissera I, Steichen-Gersdorf E, et al. A family with visceral course of Niemann-Pick disease, macular halo syndrome and low sphingomyelin degradation rate. J Inherit Metab Dis 1994; 17: 93-103.
32. Sogawa H, Horino K, Nakamura F, Kudoh T, Oyanagi K, Yamanouchi T, et al. Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. Eur J Pediatr 1978; 128: 235-40.
33. Wasserstein M, Desnick R, Schuchman E, Hossain S, Wallenstein S, Lamm C, et al. The natural history of type B Niemann-Pick disease: results from a 10-year longitudinal study. Pediatrics 2004; 114: 672-7.
34. Wasserstein M, Aron A, Brodie S, Simonaro C, Desnick R, McGovern M. Acid sphingomyelinase deficiency: prevalence and characterization of an intermediate phenotype of Niemann-Pick disease. J Pediatr 2006; 149: 554-9.
35. Waters PJ, Parniak MA, Hewson AS, Scriver CR. Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH). Hum Mutat 1998; 12: 3447-54.
36. Wenger DA, Wiliams C. Screening for lysosomal disorders. In: Hommes FA, editor. Techniques in diagnostic human biochemical genetics. A laboratory manual. New York: Wiley-Liss; 1991. p. 587-617.