Familial prion diseases in the Basque Country (Spain).
In 1995, a surveillance system for prion diseases was set up in the Basque Country, an autonomous region in northern Spain (2.1 million inhabitants). In the period from January 1993 to December 2003, we diagnosed 21 patients with familial prion diseases prospectively and another 4 patients retrospectively. They represent 35% of all the cases referred to the epidemiological registry. Two main possible explanations for this unusual high incidence of familial prion diseases are proposed: first, comprehensive case ascertainment by public health neurologists; second, a probable cluster of the D178N mutation within families of Basque origin related to a still unconfirmed common ancestor. Further genetic and genealogical studies should resolve this issue.
Zarranz
Juan J
JJ
Service of Neurology, Hospital Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Spain. jjzarranz@hcru.osakidetza.net
Digon
Anton
A
Atarés
Begoña
B
Arteagoitia
José M
JM
Carrera
Nieves
N
Fernández-Manchola
Iñaki
I
Fernández-Martínez
Manuel
M
Fernández-Maiztegui
Covadonga
C
Forcadas
Isabel
I
Galdos
Luis
L
Ibáñez
Agustín
A
Lezcano
Elena
E
Martí-Massó
José F
JF
Mendibe
María M
MM
Urtasun
Miguel
M
Uterga
Juan M
JM
Saracibar
Nieves
N
Velasco
Fernando
F
González de Galdeano
Luis
L
D000328:Adult; D000368:Aged; D016000:Cluster Analysis; D005190:Family; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D011159:Population Surveillance; D017096:Prion Diseases / Q000453:epidemiology* / Q000235:genetics*; D012042:Registries; D013030:Spain / Q000453:epidemiology