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Neurogenetic disorders in the Basque population.

José Félix Martí Massó1, Juan José Zarranz, David Otaegui

  • 1Department of Neurology at Hospital Universitario Donostia (San Sebastián, Guipúzcoa), Basque Health Service (Osakidetza), Basque Country, Spain; Department of Neurosciences, University of Basque Country (UPV-EHU); Centre for Networked Biomedical Research on Neurodegenerative Diseases (CIBERNED); Carlos III Health Institute, Ministry of Economy and Competitiveness, Spain; BioDonostia Institute, San Sebastián, Guipúzcoa; JAKIUNDE, Academia de las Ciencias, de las Artes y de las Letras.

Annals of Human Genetics
|December 3, 2014
PubMed
Summary

The Basque population

Keywords:
Basqueneurogenetic disorderspopulation genetics

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Area of Science:

  • Genetics
  • Neuroscience
  • Population Studies

Background:

  • Relict populations offer unique opportunities for neurogenetic disorder research.
  • The Basque people, an ancient European population, are valuable for studying genetic conditions.
  • Understanding genotype-phenotype correlations is crucial in the molecular era.

Purpose of the Study:

  • To catalog neurogenetic disorders within the Basque population.
  • To investigate the role of ancestral mutations and case accumulation in these disorders.
  • To explore genetic risk and protective factors for complex neurological diseases in this group.

Main Methods:

  • Literature search using PubMed with specific keywords (Basque, neurogenetic disorders, genetic risk, neurological disorders).
  • Identification and categorization of reported neurogenetic disorders in the Basque population.
  • Review of genetic factors influencing complex neurological diseases.

Main Results:

  • Nine autosomal and two recessive neurogenetic disorders linked to ancestral mutations were identified in the Basque population.
  • Specific mutations were noted for conditions including PNRP, PARK8, FTDP-TDP43, LGMD2A, VCP, c9ORF72, CMT4A, DM1, PARK1, and MAPT.
  • Genes influencing risk/protection for multiple sclerosis, Alzheimer's, and Parkinson's diseases were also reported.

Conclusions:

  • The Basque population serves as a valuable resource for studying neurogenetic disorders and genotype-phenotype correlations.
  • Ancestral mutations and unique genetic profiles contribute to specific neurological conditions in this population.
  • Further investigation in genetically homogeneous groups aids in understanding genetic variants and their phenotypic impact.