Norrbottnian clinical variant of Gaucher disease in Southern Italy

Autor: Michele Grisolia, Ferdinando Ceravolo, Francesca Falvo, Simona Sestito, Renato Cantaffa, Mirella Filocamo, Daniela Concolino, Serena Grossi, Maria Teresa Moricca, Pietro Strisciuglio
Přispěvatelé: Sestito, Simona, Filocamo, Mirella, Ceravolo, Ferdinando, Falvo, Francesca, Grisolia, Michele, Moricca, Maria Teresa, Cantaffa, Renato, Grossi, Serena, Strisciuglio, Pietro, Concolino, Daniela
Rok vydání: 2016
Předmět:
Zdroj: Journal of Human Genetics. 62:507-511
ISSN: 1435-232X
1434-5161
DOI: 10.1038/jhg.2016.158
Popis: 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.
Databáze: OpenAIRE
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