title: Norrbottnian clinical variant of Gaucher disease in Southern Italy.
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.
authors.affiliation: Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Sestito
authors.affiliation: Centro di diagnostica genetica e biochimica delle malattie metaboliche, Istituto G. Gaslini, Genoa, Italy.
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
authors.affiliation: Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.
authors.forename: Ferdinando
authors.initials: F
authors.lastname: Ceravolo
authors.affiliation: Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Falvo
authors.affiliation: Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.
authors.forename: Michele
authors.initials: M
authors.lastname: Grisolia
authors.affiliation: Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.
authors.forename: Maria Teresa
authors.initials: MT
authors.lastname: Moricca
authors.affiliation: Hematology, 'Pugliese-Ciaccio' Hospital, Catanzaro, Italy.
authors.forename: Renato
authors.initials: R
authors.lastname: Cantaffa
authors.affiliation: Centro di diagnostica genetica e biochimica delle malattie metaboliche, Istituto G. Gaslini, Genoa, Italy.
authors.forename: Serena
authors.initials: S
authors.lastname: Grossi
authors.affiliation: Department of Translational Medical Science, Section of Paediatrics, University 'Federico II' of Naples, Naples, Italy.
authors.forename: Pietro
authors.initials: P
authors.lastname: Strisciuglio
authors.affiliation: Department of Medical and Surgical Science, Paediatric Unit, University 'Magna Graecia', Catanzaro, Italy.
authors.forename: Daniela
authors.initials: D
authors.lastname: Concolino
mesh_terms: D000328:Adult; D017668:Age of Onset; D005260:Female; D005776:Gaucher Disease / Q000453:epidemiology* / Q000235:genetics* / Q000503:physiopathology; D005838:Genotype; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D013548:Sweden / Q000453:epidemiology; D001617:beta-Glucosidase / Q000235:genetics*
chemical_list: D001617:beta-Glucosidase