The Generative Brain

Basque Country registry of human spongiform encephalopathies (Registro de Enfermedades Espongiformes, Basque Government Department of Health)

The Basque Government Department of Health set up a population based registry of spongiform encephalopathies in 1995, following the European concerted action on CJD surveillance, with the main aim of catching any variant CJD case. It covers the whole Basque Country, counted cases back to 1993, and became a compulsory notification system in 2001. Papers from Basque neurologists and the government epidemiological surveillance service used it to describe a cluster of genetic prion disease, mostly the D178N mutation, concentrated in Alava. It is one of the regional systems that report to the national registry at the ISCIII National Epidemiology Centre. Today the Basque Government publishes a TSE surveillance protocol among its notifiable disease protocols, but no current page names the registry itself.

Key facts

  • The Basque health department created the Registro de Enfermedades Espongiformes in 1995 after a European concerted action; its main aim was to detect possible variant CJD, with incidence, clinical, genetic and pathological profiles, iatrogenic cases and risk factors as secondary aims.
  • The registry is population based for the whole Basque Country, collected cases retrospectively from 1993 and prospectively from 1995, and notification has been compulsory since 2001; the Spanish and English abstracts differ on whether the retrospective period ended in 1994 or 1995.
  • The 2007 review of the registry was coauthored by the Servicio de Vigilancia Epidemiologica of the Basque Government health department with Cruces Hospital neurology, Txagorritxu Hospital pathology, the UPV-EHU DNA bank and the NEIKER agricultural research institute.
  • To December 2005 the registry had 85 referrals and 51 autopsies, of which 15 were not prion disease; it counted about 51 sporadic cases (30 confirmed by neuropathology) and 19 genetic cases, all confirmed by molecular analysis: 17 D178N and 2 E200K.
  • Autopsy rates neared 100 percent in the later years, which the authors credit to a reference centre autopsy system that the abstract does not name.
  • Recorded sporadic CJD incidence rose from about 1 per million per year in 1993 to 1999 to 2.6 in 2000 to 2005, and 3.7 in 2005; the authors call the Basque notification rate the highest in Europe but say it is unclear how much is better case finding.
  • Genetic cases are concentrated in Alava, probably through a D178N founder effect, which the authors describe as the first D178N cluster reported worldwide.
  • A 2005 Neuroepidemiology paper says the Basque surveillance system was set up in 1995 for about 2.1 million people and that from January 1993 to December 2003, 21 familial cases were diagnosed prospectively and 4 retrospectively, 35 percent of cases referred to the registry.
  • The same paper puts the high familial share down to thorough case finding by public health service neurologists and a probable D178N cluster in Basque families.
  • A 2005 J Neurol Neurosurg Psychiatry paper reports 19 D178N patients referred to the regional registry between 1993 and 2003, with 10 more found retrospectively in neurology or neuropathology records; a 2005 Hum Genet paper refers to 12 apparently unrelated D178N pedigrees in the Basque Prion Diseases Registry since 1993.
  • The general legal frame is Decreto 312/1996 of 24 December, which created the Basque epidemiological surveillance system; an order of 21 January 2016 updated its weekly and individual notification sheets to match the state list in Orden SSI/445/2015, and filing them is compulsory for doctors and health centres in the Basque Country.
  • The Basque Government protocols page lists a surveillance protocol for human transmissible spongiform encephalopathies; the link text says updated 31 January 2019 while the current file name carries 7 August 2024.
  • A search excerpt of that protocol says it adapts the national RENAVE protocols and calls CJD the most frequent human TSE; the full text was not read.
  • The euskadi.eus list of Basque epidemiological registries (eight entries, page modified 22 June 2026) has no separate TSE or CJD registry, and the rare diseases registry page does not mention prion disease.
  • The general communicable disease surveillance page (last modified 12 September 2018) links the individual notification sheet but gives no TSE specific route.
  • Under the national protocol a doctor must notify a suspected human TSE within 48 hours to the regional registry, regions send cases and updates to the national registry monthly, and each region names a clinical and an epidemiological coordinator.
  • National data describe 17 regional systems feeding the ISCIII registry and put genetic prion disease in the Basque Country at about four times the national rate.
  • A 2023 Basque series of 16 FFI cases (2010 to 2021) states that FFI has unusually high incidence in the Basque Country and acknowledges a Basque Government grant.

Timeline

  1. 1993Start of the case period counted retrospectively by the Basque registry.
  2. 1995Basque health department sets up the registry after the European concerted action.
  3. 1996Decreto 312/1996 creates the Basque epidemiological surveillance system.
  4. 2001Notification of spongiform encephalopathies becomes compulsory.
  5. 2005Neuroepidemiology, J Neurol Neurosurg Psychiatry and Hum Genet papers describe familial cases and the D178N cluster from registry data.
  6. 2005Data cut of the 2007 review: 85 referrals, 19 genetic cases.
  7. 2007Review of the registry published in Gaceta Medica de Bilbao.
  8. 2016Order updates the annexes of Decreto 312/1996; in force from 11 February 2016.
  9. 2019Basque TSE surveillance protocol updated, per the protocols page link text.
  10. 2024A newer protocol file dated 7 August 2024 by its name is posted; its content was not read.
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