Martí Massó José Félix, Zarranz Juan José, Otaegui David, López de Munain Adolfo
Department 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.
Ann Hum Genet. 2015 Jan;79(1):57-75. doi: 10.1111/ahg.12088. Epub 2014 Dec 1.
In the molecular era, the study of neurogenetic disorders in relict populations provides an opportunity to discover new genes by linkage studies and to establish clearer genotype-phenotype correlations in large cohorts of individuals carrying the same mutation. The Basque people are one of the most ancient populations living in Europe and represent an excellent resource for this type of analysis in certain genetic conditions. Our objective was to describe neurogenetic disorders reported in the Basque population due to the presence of ancestral mutations or an accumulation of cases or both. We conducted a search in PubMed with the terms: Basque, neurogenetic disorders, genetic risk, and neurological disorders. We identified nine autosomal and two recessive disorders in the Basque population attributable to ancestral mutations (such as in PNRP, PARK8, FTDP-TDP43, LGMD2A, VCP, c9ORF72, and CMT4A), highly prevalent (DM1) or involving unique mutations (PARK1 or MAPT). Other genes were reported for their role as protective/risk factors in complex diseases such as multiple sclerosis, Alzheimer's disease, and Parkinson's disease. At the present time, when powerful sequencing techniques are identifying large numbers of genetic variants associated with unique phenotypes, the scrutiny of these findings in genetically homogeneous populations can help analyze genotype-phenotype correlations.
