A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation
Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropath...
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Frontiers Media S.A.
2016-11-01
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| Series: | Frontiers in Neurology |
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| Online Access: | http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00185/full |
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doaj-eadeed14df0746dda8f3dc484882e74d2020-11-24T21:59:49ZengFrontiers Media S.A.Frontiers in Neurology1664-22952016-11-01710.3389/fneur.2016.00185225213A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentationMarco Ceccanti0Chiara Cambieri1Vittorio Frasca2Emanuela Onesti3Antonella Biasotta4Carla Giordano5Sabina Maria Bruno6Giancarlo Testino7Marco Lucarelli8Marcello Arca9Maurizio Inghilleri10Sapienza University of RomeSapienza University of RomeSapienza University of RomeSapienza University of RomeSapienza University of RomeSapienza University of RomeSapienza University of Rome, Rome, Italy.Sapienza University of Rome, Rome, Italy.Sapienza University of Rome, Rome, Italy.Sapienza University of RomeSapienza University of RomeTangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family.http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00185/fullMutationTangier DiseaseNeuropathyHypoalphalipoproteinemiademielinating |
| collection |
DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
Marco Ceccanti Chiara Cambieri Vittorio Frasca Emanuela Onesti Antonella Biasotta Carla Giordano Sabina Maria Bruno Giancarlo Testino Marco Lucarelli Marcello Arca Maurizio Inghilleri |
| spellingShingle |
Marco Ceccanti Chiara Cambieri Vittorio Frasca Emanuela Onesti Antonella Biasotta Carla Giordano Sabina Maria Bruno Giancarlo Testino Marco Lucarelli Marcello Arca Maurizio Inghilleri A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation Frontiers in Neurology Mutation Tangier Disease Neuropathy Hypoalphalipoproteinemia demielinating |
| author_facet |
Marco Ceccanti Chiara Cambieri Vittorio Frasca Emanuela Onesti Antonella Biasotta Carla Giordano Sabina Maria Bruno Giancarlo Testino Marco Lucarelli Marcello Arca Maurizio Inghilleri |
| author_sort |
Marco Ceccanti |
| title |
A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation |
| title_short |
A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation |
| title_full |
A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation |
| title_fullStr |
A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation |
| title_full_unstemmed |
A novel mutation in ABCA1 gene causing Tangier Disease in an Italian family with uncommon neurological presentation |
| title_sort |
novel mutation in abca1 gene causing tangier disease in an italian family with uncommon neurological presentation |
| publisher |
Frontiers Media S.A. |
| series |
Frontiers in Neurology |
| issn |
1664-2295 |
| publishDate |
2016-11-01 |
| description |
Tangier disease is an autosomal recessive disorder characterized by severe reduction in HDL-cholesterol and peripheral lipid storage. We describe a family with c.5094C>A p.Tyr16980* mutation in the ABCA1 gene, clinically characterized by syringomyelic-like anesthesia, demyelinating multineuropathy and reduction in intraepidermal small fibers innervation. In the proband patient, cardiac involvement determined a myocardial infarction; lipid storage was demonstrated in gut, cornea and aortic wall. The reported ABCA1 mutation has never been described before in a Tangier family. |
| topic |
Mutation Tangier Disease Neuropathy Hypoalphalipoproteinemia demielinating |
| url |
http://journal.frontiersin.org/Journal/10.3389/fneur.2016.00185/full |
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