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.
Service of Neurology, Hospital Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Spain. jjzarranz@hcru.osakidetza.net
Juan J
JJ
Zarranz
Anton
A
Digon
Begoña
B
Atarés
José M
JM
Arteagoitia
Nieves
N
Carrera
Iñaki
I
Fernández-Manchola
Manuel
M
Fernández-Martínez
Covadonga
C
Fernández-Maiztegui
Isabel
I
Forcadas
Luis
L
Galdos
Agustín
A
Ibáñez
Elena
E
Lezcano
José F
JF
Martí-Massó
María M
MM
Mendibe
Miguel
M
Urtasun
Juan M
JM
Uterga
Nieves
N
Saracibar
Fernando
F
Velasco
Luis
L
González de Galdeano
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