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Journal of Neurology

, Volume 259, Issue 11, pp 2488–2490 | Cite as

Molecular evaluation of human Ubiquilin 2 gene PXX domain in familial frontotemporal dementia patients

  • Isabel Hernández
  • Anna Espinosa
  • Luis Miguel Real
  • Jose Jorge Galán
  • Ana Mauleón
  • Maiteé Rosende Roca
  • Lluís Tárraga
  • Agustín RuizEmail author
  • Mercè Boada
Letter to the Editors

Dear Sirs,

Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) phenotypes appear in the same pedigrees [1] and can occur in the same individuals [2] (FTDALS, OMIM 105550). In fact about 2–3 % of ALS patients develop dementia [3]. Consequently, in some individuals, there appears to be a common genetic etiology for both diseases. Genetic variation identified in GRN, FUS, TDP-43, and more recently, in C9ORF72 and UBQLN2 genes has been associated to familial ALS (FALS, OMIN 104105), familial FTD (OMIM 600274) and/or FTDALS consistent with the notion that both disorders may share genetic components and, probably, functional pathogenic mechanisms [4, 5, 6, 7, 8].

UBQLN2 gene was recently identified by Deng et al. [7] as a novel dominant but not fully penetrant X-linked FTDALS gene. Specifically, five segregating mutations in four different proline residues within the PXX repeat domain of UBQLN2gene were identified in families afflicted with ALS/dementia. Importantly, the...

Keywords

Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis Patient Frontotemporal Dementia Progressive Supranuclear Palsy Familial Amyotrophic Lateral Sclerosis 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We would like to thank patients who participated in this project. We are indebted to Trinitat Port-Carbó and her family who are supporting Fundació ACE research programs.

Conflicts of interest

None.

Supplementary material

415_2012_6568_MOESM1_ESM.ppt (620 kb)
Supplementary material 1 (PPT 619 kb)

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Copyright information

© Springer-Verlag 2012

Authors and Affiliations

  • Isabel Hernández
    • 1
  • Anna Espinosa
    • 1
  • Luis Miguel Real
    • 2
  • Jose Jorge Galán
    • 2
  • Ana Mauleón
    • 1
  • Maiteé Rosende Roca
    • 1
  • Lluís Tárraga
    • 1
  • Agustín Ruiz
    • 1
    Email author
  • Mercè Boada
    • 1
  1. 1.Memory Clinic of Fundació ACEInstitut Català de Neurociències AplicadesBarcelonaSpain
  2. 2.Department of Structural GenomicsNeocodexSevillaSpain

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