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

  • Original Article
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Journal of Inherited Metabolic Disease

Summary

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 are associated with certain disease stages. Eight men and two women (19–40 years of age) harbouring mutations in the gene coding for the cholesterol trafficking protein NPC1 were put through the same test battery independently of their disease stage. The external staging criterion was based on a five-step clinical scale. Trail Making tests A & B and verbal fluency were sensitive indicators at early stages of NPC. Corsi Block-Tapping, Mini Mental Status, Find Similarities and Clock Drawing showed abnormal results in patients with advanced disease. The Grooved Pegboard, Trail Making and Mosaic tests were unsuitable in advanced disease due to impaired fine motor skills. We observed that visuospatial working memory was less affected by the neurodegenerative process than verbal working memory. The series of tests used here could be supplemented by the severe impairment battery and Raven matrices tests for patients with advanced disease.

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Abbreviations

cDNA:

complementary DNA

CERAD:

Consortium to Establish a Registry for Alzheimer’s Disease

DNA:

deoxyribonucleic acid

MMST:

mini mental status test

NPC:

Niemann-Pick type C

NPC1:

Niemann-Pick C1

PPV:

Peabody picture vocabulary

RNA:

ribonucleic acid

RT-PCR:

reverse transcription polymerase chain reaction

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Authors and Affiliations

  1. Institute for Psychogerontology, University of Erlangen-Nuremberg, Erlangen, Germany

    B. Klarner & R. Rupprecht

  2. Department of Psychiatry, University of Regensburg School of Medicine, Regensburg, Germany

    H. H. Klünemann

  3. Department of Neurology, University of Regensburg School of Medicine, Regensburg, Germany

    R. Lürding

  4. Institute of Clinical Chemistry, University of Regensburg School of Medicine, Regensburg, Germany

    C. Aslanidis

Authors
  1. B. Klarner
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  2. H. H. Klünemann
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  3. R. Lürding
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  4. C. Aslanidis
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  5. R. Rupprecht
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Corresponding author

Correspondence to H. H. Klünemann.

Additional information

Communicating editor: Guy Besley

Competing interests: None declared

References to electronic databases: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db = OMIM

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Klarner, B., Klünemann, H.H., Lürding, R. et al. Neuropsychological profile of adult patients with Niemann–Pick C1 (NPC1) mutations. J Inherit Metab Dis 30, 60–67 (2007). https://doi.org/10.1007/s10545-006-0417-6

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  • DOI: https://doi.org/10.1007/s10545-006-0417-6

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