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dc.contributor.authorHabekost, Clarissa Trollerpt_BR
dc.contributor.authorSchestatsky, Pedropt_BR
dc.contributor.authorTorres, Vitor Félixpt_BR
dc.contributor.authorCoelho, Daniella de Mourapt_BR
dc.contributor.authorVargas, Carmen Reglapt_BR
dc.contributor.authorTorrez, Vitor Roccopt_BR
dc.contributor.authorOses, Jean Pierrept_BR
dc.contributor.authorPortela, Luis Valmor Cruzpt_BR
dc.contributor.authorPereira, Fernanda dos Santospt_BR
dc.contributor.authorMatte, Ursula da Silveirapt_BR
dc.contributor.authorJardim, Laura Bannachpt_BR
dc.date.accessioned2015-02-19T02:16:42Zpt_BR
dc.date.issued2014pt_BR
dc.identifier.issn1750-1172pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/110187pt_BR
dc.description.abstractBackground: Neurologic impairments in female heterozygotes for X-linked Adrenoleukodystrophy (X-ALD) are poorly understood. Our aims were to describe the neurological and neurophysiological manifestations of a cohort of X-ALD heterozygotes, and to correlate them with age, disease duration, mutations, X-inactivation and serum concentrations of a marker of neuronal damage, neuron-specific enolase (NSE). Methods: All 45 heterozygotes identified in our region, with previous VLCFA and molecular diagnosis, were invited to be evaluated through myelopathy scales JOA and SSPROM, nerve conduction studies and somatosensory evoked responses. X inactivation pattern was tested by HUMARA methylation assay. Serum NSE was measured by eletrochemiluminescense. Thirty three heterozygote women were recruited: 29 (87%) were symptomatic. Symptomatic and asymptomatic women presented different m± sd ages (43.9 ± 10.2 versus 24.3 ± 4.6), JOA (14.5 ± 1.7 versus 16.6 ± 0.2) and SSPROM (86.6 ± 7.9 versus 98.4 ± 1.1) scores (p < 0.05). Both JOA (r = −0.68) and SSPROM (r = −0.65) correlated with age, irrespectively of the disease status (p = 0.0001, Spearman). Delayed latencies in the central ascending conduction studies on the lower limbs were present in 72% of all heterozygotes, and correlated with SSPROM (r = −0.47, p = 0.018, Spearman). NSE values were higher in heterozygote than in control women (12.9 ± 7 and 7.2 ± 7 ng/ml, p = 0.012, Mann-Whitney U). Mutation severity and inactivation patterns were not associated with neurologic status. Conclusion: Neurologic manifestations, clearly related to age, were quite common in the present cohort. JOA and SSPROM scales were able to discriminate the asymptomatic from the symptomatic heterozygotes. Both scales might be useful tools to follow disease progression, in future studies.en
dc.format.mimetypeapplication/pdfpt_BR
dc.language.isoengpt_BR
dc.relation.ispartofOrphanet journal of rare diseases. London. Vol. 9, no. 1 (Jan. 2014), [10 p.]pt_BR
dc.rightsOpen Accessen
dc.subjectAdrenoleucodistrofiapt_BR
dc.subjectX-linked adrenoleukodystrophyen
dc.subjectX-ALD heterozygote femalesen
dc.subjectHeterozigotopt_BR
dc.subjectFosfopiruvato hidratasept_BR
dc.subjectX-ALD carriersen
dc.subjectParaplegiapt_BR
dc.subjectJOAen
dc.subjectSSPROMen
dc.subjectPotenciais evocadospt_BR
dc.subjectNeuron-specific enolaseen
dc.subjectEvoked potentialsen
dc.subjectNerve conductionen
dc.subjectX inactivationen
dc.subjectSpastic paraplegiaen
dc.titleNeurological impairment among heterozygote women for X-linked Adrenoleukodystrophy : a case control study on a clinical, neurophysiological and biochemical characteristicspt_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000935460pt_BR
dc.type.originEstrangeiropt_BR


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