Norrbottnian clinical variant of Gaucher disease in Southern Italy
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 clinica...
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ftunivnapoliiris:oai:www.iris.unina.it:11588/668870 2024-09-09T19:59:42+00:00 Norrbottnian clinical variant of Gaucher disease in Southern Italy Sestito, Simona Filocamo, Mirella Ceravolo, Ferdinando Falvo, Francesca Grisolia, Michele Moricca, Maria Teresa Cantaffa, Renato Grossi, Serena Concolino, Daniela STRISCIUGLIO, PIETRO Sestito, Simona Filocamo, Mirella Ceravolo, Ferdinando Falvo, Francesca Grisolia, Michele Moricca, Maria Teresa Cantaffa, Renato Grossi, Serena Strisciuglio, Pietro Concolino, Daniela 2017 http://hdl.handle.net/11588/668870 https://doi.org/10.1038/jhg.2016.158 eng eng info:eu-repo/semantics/altIdentifier/wos/WOS:000398594300010 volume:62 issue:4 firstpage:507-511 lastpage:511 journal:JOURNAL OF HUMAN GENETICS http://hdl.handle.net/11588/668870 doi:10.1038/jhg.2016.158 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85016236457 info:eu-repo/semantics/article 2017 ftunivnapoliiris https://doi.org/10.1038/jhg.2016.158 2024-06-17T15:19:32Z 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. Article in Journal/Newspaper Northern Sweden IRIS Università degli Studi di Napoli Federico II Journal of Human Genetics 62 4 507 511 |
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IRIS Università degli Studi di Napoli Federico II |
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ftunivnapoliiris |
language |
English |
description |
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. |
author2 |
Sestito, Simona Filocamo, Mirella Ceravolo, Ferdinando Falvo, Francesca Grisolia, Michele Moricca, Maria Teresa Cantaffa, Renato Grossi, Serena Strisciuglio, Pietro Concolino, Daniela |
format |
Article in Journal/Newspaper |
author |
Sestito, Simona Filocamo, Mirella Ceravolo, Ferdinando Falvo, Francesca Grisolia, Michele Moricca, Maria Teresa Cantaffa, Renato Grossi, Serena Concolino, Daniela STRISCIUGLIO, PIETRO |
spellingShingle |
Sestito, Simona Filocamo, Mirella Ceravolo, Ferdinando Falvo, Francesca Grisolia, Michele Moricca, Maria Teresa Cantaffa, Renato Grossi, Serena Concolino, Daniela STRISCIUGLIO, PIETRO Norrbottnian clinical variant of Gaucher disease in Southern Italy |
author_facet |
Sestito, Simona Filocamo, Mirella Ceravolo, Ferdinando Falvo, Francesca Grisolia, Michele Moricca, Maria Teresa Cantaffa, Renato Grossi, Serena Concolino, Daniela STRISCIUGLIO, PIETRO |
author_sort |
Sestito, Simona |
title |
Norrbottnian clinical variant of Gaucher disease in Southern Italy |
title_short |
Norrbottnian clinical variant of Gaucher disease in Southern Italy |
title_full |
Norrbottnian clinical variant of Gaucher disease in Southern Italy |
title_fullStr |
Norrbottnian clinical variant of Gaucher disease in Southern Italy |
title_full_unstemmed |
Norrbottnian clinical variant of Gaucher disease in Southern Italy |
title_sort |
norrbottnian clinical variant of gaucher disease in southern italy |
publishDate |
2017 |
url |
http://hdl.handle.net/11588/668870 https://doi.org/10.1038/jhg.2016.158 |
genre |
Northern Sweden |
genre_facet |
Northern Sweden |
op_relation |
info:eu-repo/semantics/altIdentifier/wos/WOS:000398594300010 volume:62 issue:4 firstpage:507-511 lastpage:511 journal:JOURNAL OF HUMAN GENETICS http://hdl.handle.net/11588/668870 doi:10.1038/jhg.2016.158 info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85016236457 |
op_doi |
https://doi.org/10.1038/jhg.2016.158 |
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Journal of Human Genetics |
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62 |
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