CLINICAL AND GENETIC SPECIAL FEATURES OF NIEMANN-PICK DISEASE, TYPE C

Cover Page

Abstract


Niemann-Pick disease, type C is a rare hereditary disorder of the group of lisosomal storage diseases, caused by mutations in the genes NPC1 or NPC2. Depending on the onset age, several clinical forms of this disease, which differs by manifestation age, main clinical signs and clinical course, are distinguished. Niemann-Pick disease type C can imitate other hereditary and acquired diseases, which complicates its early diagnostics. Clinical and genetic diversity of this disorder, considered on the clinical cases diagnosed at the FSI «RCMG» of RAMS, are discussed in this review.




E. Yu. Zakharova

Research Centre of Medical Genetics of RAMS, Moscow, Russian Federation

Author for correspondence.
Email: neonatepearl@yandex.ru

Russian Federation Candidate of Medical Sciences, Head of Laboratory of Hereditary Metabolism Disorders, Medical-Genetic Scientific Center, Russian Academy of Medical Sciences Address: 115478, Moscow, Moskvorechye str., 1; Tel.: (499) 324-20-04

S. V. Mikhailova

Russian Clinical Children’s Hospital of Ministry of Healthcare of Russian Federation, Moscow, Russian Federation

Email: neonatepearl@yandex.ru

Russian Federation PhD, Head of Medical Genetics Department, Russian Children’s Clinical Hospital Address: 117997, Moscow, Leninskiy av., 117; Tel: (495) 936-94-20

T. Yu. Proshlyakova

Research Centre of Medical Genetics of RAMS, Moscow, Russian Federation

Email: neonatepearl@yandex.ru

Russian Federation

G. E. Rudenskaya

Research Centre of Medical Genetics of RAMS, Moscow, Russian Federation

Email: neonatepearl@yandex.ru

Russian Federation PhD, Head Scientific Worker, Scientific Consultative Department, Medical-Genetic Scientific Center, Russian Academy of Medical Sciences Address: 115478, Moscow, Moskvorechye str., 1; Tel.: (499) 324-87-72

  1. Mikhailova S.V, Zakharova E.Yu., Petrukhin A.S. Neirometabolicheskie zabolevaniya u detei i podrostkov [Neurometabolic Diseases in Children and Adolescents]. Moscow, Litterra, 2011. p. 352.
  2. Wraith J., Vecchio D., Jacklin E. et al. Miglustat in adult and juvenile patients with Niemann–Pick disease type C: long-term data from a clinical trial. Mol. Genet. Metab. 2010; 99: 351–357.
  3. Madra M., Sturley S.L. Niemann–Pick type C pathogenesis and treatment: from statins to sugars. Clin. Lipidol. 2010; (5): 387–395.
  4. Sleat D.E., Wiseman J.A., El-Banna M., Price S.M., Verot L. et al. Genetic evidence for nonredundant functional cooperativity between NPC1 and NPC2 in lipid transport. Proc. Natl. Acad. Sci. USA. 2004; 5886–5891.
  5. Park W.D., O’Brien J.F., Lundquist P.A. et al. Identification of 58 novel mutations in Niemann–Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum. Mutat.2003; 22: 313–325.
  6. Chikh K., Rodriguez C., Vey S., Vanier M.T., Millat G. Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations. Hum. Mutat. 2005; 26: 20–28.
  7. Rudenskaya G.E., Bukina T.M., Zakharova E.Yu. Niemann-Pick disease, type C: adult form with prevalence of mental disorders. Zhurn. nevrol. i psikhiatr. = Journal of neurology and psychiatry. 2011; 111 (7): 71–75.
  8. Rudenskaya G.E., Zakharova E.Yu., Bukina T.M. et al. The disease Niemann-Pick type C (juvenile dystonic lipidosis). Zhurn. nevrol. i psikhiatr. = Journal of neurology and psychiatry. 2008; 5: 76–79.
  9. Mikhailova S.V., Zakharova E.Yu., Bukina T.M. Niemann-Pick disease, type C. Clinical examples. Pediatricheskaya farmakologiya = Pediatric pharmacology. 2010; 7 (5): 48–53.
  10. Wraith J.E., Guffon N., Rohrbach M. et al. Natural history of Niemann–Pick disease type C in a multicentre observational retrospective cohort study. Mol. Genet. Metab. 2009; 98: 250–254.

Views

Abstract - 19

PDF (Russian) - 27

Cited-By


PlumX



Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 International License.