Canavan gaixotasuna (aspartoazilasaren gabezia)Euskal Herriko lehen kasuaren eta Europako mutazio berri baten aurkezpena

  1. Beñat de Alba Iriarte 1
  2. Maria Letona Luqui 1
  3. Ainhoa Igarzabal Irizar 1
  4. Maria Unceta Suarez 2
  5. Miren Lacasta Esain 1
  6. Raquel Muguerza Iraola 1
  7. Julien Swen Crettaz 1
  8. Otilia Martinez-Mugica Barbosa 1
  9. Itxaso Marti Carrera 1
  1. 1 Hospital Universitario de Donostia
    info

    Hospital Universitario de Donostia

    San Sebastián, España

    ROR https://ror.org/04fkwzm96

  2. 2 Hospital de Cruces
    info

    Hospital de Cruces

    Barakaldo, España

    ROR https://ror.org/03nzegx43

Journal:
Osagaiz: osasun-zientzien aldizkaria

ISSN: 2530-9412

Year of publication: 2020

Volume: 4

Issue: 2

Pages: 71-78

Type: Article

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Abstract

Canavan disease, a rare genetic and metabolic neurodegenerative disorder, occurs at early ages, causing visual, neurological alterations, and fatal consequences. There is no curative treatment, although lithium citrate is being investigated. The authors report the first case of Canavan disease in Basque Country associated to a novel mutation which is identified for the first time in Europe.

Data source: Dialnet