Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations

@article{Klarner2006NeuropsychologicalPO,
  title={Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations},
  author={Bernhard Klarner and Hans Hermann Kl{\"u}nemann and R. Luerding and Charalampos Aslanidis and Rainer Rupprecht},
  journal={Journal of Inherited Metabolic Disease},
  year={2006},
  volume={30},
  pages={60-67}
}
Niemann–Pick type C disease is a fatal neurovisceral disorder linked to dysregulation in cholesterol processing. A medication for this disease is currently being tested in clinical trials. However, there is a lack of information on neuropsychological testing parameters for this disease. One aim of this pilot study was to evaluate a test battery that could be used to assess cognitive deficits in different stages of the disease. A second aim was to determine whether specific functional deficits… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 23 extracted citations

References

Publications referenced by this paper.
Showing 1-10 of 24 references

Addendum to the Trail Making Test for Adults Manual for Administration

  • RM Reitan
  • 2001
Highly Influential
5 Excerpts

Cholesterol accumulation sequesters Rab 9 and disrupts late endosome function in NPC 1deficient cells

  • JJ Higgins, MC Patterson, JM Dambrosia
  • J Biol Chem
  • 2006

AAV8-mediated hepatic

  • CM Barbon, RJ Ziegler, C Li
  • 2005
1 Excerpt

Cognitive status

  • H Braak, U Rub, EN Jansen Steur
  • 2005
1 Excerpt

Gene transfer of human acid sphingomyelinase corrects neuropathology and motor deficits in a mouse model of Niemann – Pick type A disease

  • LM Dunn, LA Dunn
  • Proc Natl Acad Sci USA
  • 2005

Similar Papers

Loading similar papers…