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Chantal M E Tallaksen - One of the best experts on this subject based on the ideXlab platform.
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ataxia with Vitamin E dEficiEncy in southEast norway casE rEport
Acta Neurologica Scandinavica, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Background - Ataxia with Vitamin E dEficiEncy (AVED) is a rarE causE of hErEditary ataxia in north EuropEan countriEs with unknown prEvalEncE. FEw casEs arE rEportEd from thEsE countriEs. MEthods -Through a systEmatic population basEd study of hErEditary ataxia in southEast Norway subjEcts wErE classifiEd and invEstigatEd. Aims - To rEport a subjEct with ataxia duE to Vitamin E dEficiEncy in Norway. REsults - OnE patiEnt with AVED was idEntifiEd. ThE subjEct was a 45 yEars old woman with progrEssivE ataxia from prEschool agE. WhEn shE was 12 yEars old FriEdrEich's ataxia was diagnosEd aftEr nEurological Examination. At thE agE of 45 rE-Evaluation and rE-Examination was pErformEd and gEnEtic analysis of thE Frataxin gEnE was nEgativE. At that timE shE had truncal and ExtrEmitiEs ataxia, titubation of thE hEad, pEs cavus, invErtEd plantar rEsponsE, loss of propriocEptivE and vibration sEnsE and a sEvErE sEnsory nEuropathy. Vitamin E in sErum was undEtEctablE and gEnEtic analysis dEtEctEd a compound hEtErozygous mutation, p.A120T and p.R134X, in thE α-tocophErol transport protEin gEnE on chromosomE 8q13. Discussion - Vitamin E should always bE assEssEd in progrEssivE ataxia of gEnEtic or unExplainEd causEs and EspEcially with a FriEdrEich's ataxia-likE phEnotypE sincE trEatmEnt is availablE. Conclusion - AVED is rarE in Norway, but Exists, and wE hErE rEport thE first gEnEtically confirmEd subjEct with ataxia duE to Vitamin E dEficiEncy in Norway.
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Ataxia with Vitamin E dEficiEncy in southEast Norway, casE rEport
Acta neurologica Scandinavica. Supplementum, 2009Co-Authors: Jeanette Koht, Kari Anne Bjørnarå, Ellen Jørum, Chantal M E TallaksenAbstract:Ataxia with Vitamin E dEficiEncy (AVED) is a rarE causE of hErEditary ataxia in north EuropEan countriEs with unknown prEvalEncE. FEw casEs arE rEportEd from thEsE countriEs. Through a systEmatic population basEd study of hErEditary ataxia in southEast Norway subjEcts wErE classifiEd and invEstigatEd. To rEport a subjEct with ataxia duE to Vitamin E dEficiEncy in Norway. OnE patiEnt with AVED was idEntifiEd. ThE subjEct was a 45 yEars old woman with progrEssivE ataxia from prEschool agE. WhEn shE was 12 yEars old FriEdrEich's ataxia was diagnosEd aftEr nEurological Examination. At thE agE of 45 rE-Evaluation and rE-Examination was pErformEd and gEnEtic analysis of thE Frataxin gEnE was nEgativE. At that timE shE had truncal and ExtrEmitiEs ataxia, titubation of thE hEad, pEs cavus, invErtEd plantar rEsponsE, loss of propriocEptivE and vibration sEnsE and a sEvErE sEnsory nEuropathy. Vitamin E in sErum was undEtEctablE and gEnEtic analysis dEtEctEd a compound hEtErozygous mutation, p.A120T and p.R134X, in thE alpha-tocophErol transport protEin gEnE on chromosomE 8q13. Vitamin E should always bE assEssEd in progrEssivE ataxia of gEnEtic or unExplainEd causEs and EspEcially with a FriEdrEich's ataxia-likE phEnotypE sincE trEatmEnt is availablE. AVED is rarE in Norway, but Exists, and wE hErE rEport thE first gEnEtically confirmEd subjEct with ataxia duE to Vitamin E dEficiEncy in Norway.
Paolo Del Grande - One of the best experts on this subject based on the ideXlab platform.
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NEural prEcursor prolifEration and nEwborn cEll survival in thE adult rat dEntatE gyrus arE affEctEd by Vitamin E dEficiEncy.
Neuroscience research, 2002Co-Authors: Sandra Ciaroni, Cecchini T, Paola Ferri, Riccardo Cuppini, Patrizia Ambrogini, Spartaco Santi, Serena Benedetti, Paolo Del Grande, Stefano PapaAbstract:ThE adult hippocampal nEurogEnEsis is affEctEd by Vitamin E dEficiEncy. In thE prEsEnt invEstigation wE ExaminEd if nEural prEcursor prolifEration, nEwborn cEll survival or both arE altErEd by Vitamin E dEficiEncy. 5-Bromo-2'-dEoxyuridinE (BrdU) was EmployEd as a markEr of prolifErating cElls. BrdU-labEllEd cElls wErE rEvEalEd 1 and 30 days aftEr BrdU administration in ordEr to EvaluatE prolifEration and nEwborn cEll survival, rEspEctivEly. CEll prolifEration dEcrEasEd in controls from juvEnilE to adult agE, and thE dEcrEasE was lEssEr in Vitamin E dEficiEncy. Thus wE found a highEr numbEr of prolifErating cElls in Vitamin E-dEficiEnt rats than in agE-matchEd controls at 5 months of agE. Comparing thE numbEr of BrdU-positivE cElls bEtwEEn 1 and 30 days aftEr thE last BrdU injEction rEvEalEd a rEmarkablE dEcrEasE in all groups; this is thE grEatEst in Vitamin E-dEficiEnt rats and thE lowEst in control rats. ConsistEntly cEll dEath in thE dEntatE gyrus, assEssEd by TUNEL tEchniquE, was found to dEcrEasE from 1 to 5 months of agE, but at 5 months it was significantly highEr in Vitamin E-dEficiEnt rats than in agE-matchEd controls. ThEsE data show that Vitamin E dEficiEncy EnhancEs nEural prEcursor prolifEration and cEll dEath during adult nEurogEnEsis.
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NEurogEnEsis in thE adult rat dEntatE gyrus is EnhancEd by Vitamin E dEficiEncy.
The Journal of comparative neurology, 1999Co-Authors: Sandra Ciaroni, Cecchini T, Paola Ferri, Riccardo Cuppini, Patrizia Ambrogini, Cuppini C, Paolo Del GrandeAbstract:NEurogEnEsis occurs throughout adult lifE in rat dEntatE gyrus. Factors and mEchanisms of adult nEurogEnEsis rEgulation arE not wEll known. Vitamin E dEficiEncy has bEEn found to dElivEr a nEurogEnEtic potEntial in rat dorsal root ganglia. To dEtErminE whEthEr thE rolE of tocophErols in adult nEurogEnEsis may bE gEnEralizEd to thE cEntral nErvous systEm, changEs in adult rat dEntatE gyrus nEurogEnEsis wErE invEstigatEd in Vitamin E dEficiEncy. NEurogEnEsis was quantitativEly studiEd by dEtErmination of thE dEnsity of 5-bromo-28-dEoxyuridinE (BrdU)-labElEd cElls and by dEtErmination of thE total numbEr of cElls in thE granulE cEll layEr. ThE BrdU-labElEd cElls wErE immunocytochEmically charactErizEd by dEmonstration of nEuronal markEr calbindin D28K. ThE following rEsults wErE found: (1) thE volumE of thE granulE layEr incrEasEd in controls from 1 to 5 months of agE, mainly duE to cEll dEnsity dEcrEasE; (2) thE volumE incrEasEd by a similar amount in Vitamin E‐dEficiEnt rats, mainly bEcausE of an incrEasE in cEll numbEr; (3) BrdU-positivE cElls wErE morE numErous in Vitamin E‐dEficiEnt rats in comparison to agE-matchEd controls; (4) thE incrEasE in prolifEratEd cElls was locatEd in thE hilus and in thE plExiform layEr. This study confirms that nEurogEnEsis occurs within adult dEntatE gyrus and dEmonstratEs that this procEss is EnhancEd in Vitamin E dEficiEncy. This finding indicatEs that Vitamin E may bE an ExogEnous factor rEgulating adult nEurogEnEsis. J. Comp. NEurol. 411:495‐502, 1999. r 1999 WilEy-Liss, Inc. IndExing tErms: dEntatE gyrus; granulE cElls; postnatal cEll birth; tocophErols
Giancarlo Gazzanelli - One of the best experts on this subject based on the ideXlab platform.
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Aging and Vitamin E DEficiEncy ArE REsponsiblE for AltErEd RNA Pathways
Annals of the New York Academy of Sciences, 2004Co-Authors: Manuela Malatesta, Carlo Bertoni-freddari, Patrizia Fattoretti, B. Baldelli, Stanislav Fakan, Giancarlo GazzanelliAbstract:Fibrillar cEntErs (FCs), dEnsE fibrillar (DFC) and granular (GC) componEnts in nuclEoli, and pErichromatin granulEs (PGs) in nuclEoplasm wErE mEasurEd by morphomEtry. FC sizE and thEir nuclEolar surfacE fraction significantly dEcrEasEd in aging and Vitamin E dEficiEncy. ThE GC and DFC nuclEolar fraction was unchangEd in adult and old rats, but in Vitamin E-dEficiEnt animals GC incrEasEd and DFC dEcrEasEd significantly. PG dEnsity significantly incrEasEd in aging and dEcrEasEd in Vitamin E dEficiEncy. ThE quantitativE Evaluation of immunolabElEd transcription and splicing factors rEvEalEd that polymErasE II and SC-35 significantly dEcrEasEd in old and Vitamin E-dEficiEnt vErsus adult animals. Fibrillarin and snRNPs did not changE bEtwEEn adult and old rats, but wErE significantly lowEr in Vitamin E-dEficiEnt rats. ThEsE data documEnt altErEd RNA pathways in aging and Vitamin E dEficiEncy. ConsidEring thE antioxidant rolE of Vitamin E, thEy lEnd furthEr support to thE importancE of frEE radical production and control in thE aging procEss.
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AltErEd RNA structural constituEnts in aging and Vitamin E dEficiEncy
Mechanisms of ageing and development, 2003Co-Authors: Manuela Malatesta, Carlo Bertoni-freddari, Patrizia Fattoretti, Stanislav Fakan, Chiara Caporaloni, Giancarlo GazzanelliAbstract:RibonuclEoprotEin (RNP) containing structural constituEnts in hEpatocytE nuclEi of adult, old and adult, Vitamin E-dEficiEnt rats wErE invEstigatEd to assEss thE EffEct of aging and incrEasEd oxidativE strEss on nuclEar functions. Fibrillar cEntrEs (FCs), dEnsE fibrillar (DFC) and granular (GC) componEnts of nuclEoli as wEll as pErichromatin granulEs (PGs) in thE nuclEoplasm wErE prEfErEntially EvidEncEd by thE EthylEnEdiaminEtEtracEtic acid (EDTA) mEthod and mEasurEd by computEr-assistEd morphomEtric procEdurEs. FCs sizE and thE pErcEntagE of nuclEolar surfacE occupiEd by FCs significantly dEcrEasEd during aging and Vitamin E-dEficiEncy. ThE pErcEntagE of nuclEolar surfacE occupiEd by GC and DFC rEmainEd unchangEd in adult and old rats, but in Vitamin E-dEficiEnt animals GC incrEasEd and DFC dEcrEasEd significantly. PG dEnsity significantly changEd in aging and Vitamin E-dEficiEncy. Functionally, FCs, DFC and GC constitutE sitEs of transcription and procEssing of ribosomal RNA whilE PGs arE involvEd in intranuclEar storagE and transport of mEssEngEr RNA. Thus, thE prEsEnt structural changEs during aging and Vitamin E-dEficiEncy corrElatE with a dEcay of nuclEar rEsponsivEnEss to cEllular mEtabolic nEEds. ConsidEring thE antioxidant action of alpha-tocophErol, our data lEnd furthEr support to thE importancE of frEE radical production and control in thE aging procEss.
Bernard Echenne - One of the best experts on this subject based on the ideXlab platform.
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Ataxia with Vitamin E dEficiEncy and sEvErE dystonia: rEport of a casE.
Brain & development, 2003Co-Authors: Agathe Roubertie, Brigitte Biolsi, François Rivier, Véronique Humbertclaude, Renée Cheminal, Bernard EchenneAbstract:Mutation of thE gEnE for alpha-tocophErol transfEr protEin causEs ataxia with isolatEd Vitamin E dEficiEncy, a disordEr usually stabilizEd or improvEd aftEr Vitamin E supplEmEntation. Dystonia has rarEly bEEn dEscribEd in ataxia with isolatEd Vitamin E dEficiEncy (AVED) patiEnts. WE prEsEnt thE casE of a young boy with AVED, whosE nEurological and Extra-nEurological cardinal symptoms of thE disEasE improvEd aftEr Vitamin E supplEmEntation but who progrEssivEly dEvElopEd gEnEralizEd dystonia.
Nardo Nardocci - One of the best experts on this subject based on the ideXlab platform.
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Myoclonic dystonia as uniquE prEsEntation of isolatEd Vitamin E dEficiEncy in a young patiEnt.
Movement disorders : official journal of the Movement Disorder Society, 2002Co-Authors: Lucia Angelini, Anna Erba, Caterina Mariotti, Cinzia Gellera, Claudia Ciano, Nardo NardocciAbstract:WE dEscribE a young patiEnt affEctEd by Vitamin E dEficiEncy with mutation in thE tocophErol tranfEr protEin allElEs and thE uniquE prEsEntation as myoclonic dystonia, which was practically thE only symptom for 6 yEars bEforE ataxia bEcamE EvidEnt. Vitamin E supplEmEntation markEdly improvEd both symptoms. This unusual clinical phEnotypE must bE considErEd, bEcausE isolatEd Vitamin E dEficiEncy is EminEntly trEatablE. © 2002 MovEmEnt DisordEr SociEty.
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Myoclonic dystonia as uniquE prEsEntation of isolatEd Vitamin E dEficiEncy in a young patiEnt.
Movement disorders : official journal of the Movement Disorder Society, 2002Co-Authors: Lucia Angelini, Anna Erba, Caterina Mariotti, Cinzia Gellera, Claudia Ciano, Nardo NardocciAbstract:WE dEscribE a young patiEnt affEctEd by Vitamin E dEficiEncy with mutation in thE tocophErol transfEr protEin allElEs and thE uniquE prEsEntation as myoclonic dystonia, which was practically thE only symptom for 6 yEars bEforE ataxia bEcamE EvidEnt. Vitamin E supplEmEntation markEdly improvEd both symptoms. This unusual clinical phEnotypE must bE considErEd, bEcausE isolatEd Vitamin E dEficiEncy is EminEntly trEatablE.
