Norrbottnian clinical variant of Gaucher disease in Southern Italy

Simona Sestito, Mirella Filocamo, Ferdinando Ceravolo, Francesca Falvo, Michele Grisolia, Maria Teresa Moricca, Renato Cantaffa, Serena Grossi, Pietro Strisciuglio, Daniela Concolino

Research output: Contribution to journalArticle

Abstract

The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared during or before the sixteenth century in northern Sweden. It is a well-defined nosological entity with a characteristic course of clinical manifestations. In particular, Norrbottnian patients described in Sweden and Poland seem to share identical clinical histories characterized by the early onset of significant hepatosplenomegaly, often requiring splenectomy at an early age. Neurological involvement generally appears during the first or second decade of life, and includes horizontal gaze palsy, epilepsy, myoclonic movements, ataxia, dementia and cognitive impairment. Osteopenia occurs primarily in the spine, causing a severe and progressive thoracic kyphosis, although the involvement of other skeletal sites cannot be excluded. Here, we report on four Gaucher type 3 patients with Southern Italian ancestry presenting with clinical features and disease progression comparable to those of the 'Norrbottnian' Swedish phenotype, particularly regarding skeletal involvement with poor responsiveness to any therapeutical approach. Although a common ancestry among Southern Italian and Swedish Norrbottnian GD patients could not be investigated, the genotype [L444P]+[L444P] is the most frequently encountered in Southern Italy.

Original languageEnglish
Pages (from-to)507-511
Number of pages5
JournalJournal of Human Genetics
Volume62
Issue number4
DOIs
Publication statusPublished - Apr 2017

Keywords

  • Adult
  • Age of Onset
  • Female
  • Gaucher Disease
  • Genotype
  • Humans
  • Italy
  • Male
  • Middle Aged
  • Phenotype
  • Sweden
  • beta-Glucosidase
  • Case Reports
  • Journal Article

Fingerprint Dive into the research topics of 'Norrbottnian clinical variant of Gaucher disease in Southern Italy'. Together they form a unique fingerprint.

  • Cite this

    Sestito, S., Filocamo, M., Ceravolo, F., Falvo, F., Grisolia, M., Moricca, M. T., Cantaffa, R., Grossi, S., Strisciuglio, P., & Concolino, D. (2017). Norrbottnian clinical variant of Gaucher disease in Southern Italy. Journal of Human Genetics, 62(4), 507-511. https://doi.org/10.1038/jhg.2016.158