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Table of Contents
Vol. 3, No. 3, 2006
Issue release date: September 2006
Neurodegenerative Dis 2006;3:129–133
(DOI:10.1159/000094771)

Genetic Variability in CHMP2B and Frontotemporal Dementia

Momeni P. · Rogaeva E. · van Deerlin V. · Yuan W. · Grafman J. · Tierney M. · Huey E. · Bell J. · Morris C.M. · Kalaria R.N. · van Rensburg S.J. · Niehaus D. · Potocnik F. · Kawarai T. · Salehi-Rad S. · Sato C. · St. George-Hyslop P. · Hardy J.
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Abstract

A nonsense/protein chain-terminating mutation in the CHMP2B gene has recently been reported as a cause of frontotemporal dementia (FTD) in the single large family known to show linkage to chromosome 3. Screening for mutations in this gene in a large series of FTD families and individual patients led to the identification of a protein-truncating mutation in 2 unaffected members of an Afrikaner family with FTD, but not in their affected relatives. The putative pathogenicity of CHMP2B mutations for dementia is discussed.



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References

  1. Morris HR, Khan MN, Janssen JC, et al: The genetic and pathological classification of familial frontotemporal dementia. Arch Neurol 2001;58:1813–1816.
  2. Rademakers R, Cruts M, van Broeckhoven C: The role of tau (MAPT) in frontotemporal dementia and related tauopathies. Hum Mutat 2004;24:277–295.
  3. Houlden H, Baker M, Adamson J, et al: Frequency of tau mutations in three series of non-Alzheimer’s degenerative dementia. Ann Neurol 1999;46:243–248.
  4. Gydesen S, Hagen S, Klinken L, Abelskov J, Sorensen SA: Neuropsychiatric studies in a family with presenile dementia different from Alzheimer and Pick disease. Acta Psychiatr Scand 1987;76:276–284.
  5. Brown J, Ashworth A, Gydesen S, et al: Familial non-specific dementia maps to chromosome 3. Hum Mol Genet 1995;4:1625–1628.
  6. Yancopoulou D, Crowther RA, Chakrabarti L, Gydesen S, Brown JM, Spillantini MG: Tau protein in frontotemporal dementia linked to chromosome 3 (FTD-3). J Neuropathol Exp Neurol 2003;62:878–882.
  7. Skibinski G, Parkinson NJ, Brown JM, et al: Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nat Genet 2005;37:806–808.
  8. Vidal R, Frangione B, Rostagno A, et al: A stop-codon mutation in the BRI gene associated with familial British dementia. Nature 1999;399:776–781.


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