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Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy : a case control study on a clinical, neurophysiological and biochemical characteristics

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Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy : a case control study on a clinical, neurophysiological and biochemical characteristics

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Título Neurological impairment among heterozygote women for X-linked Adrenoleukodystrophy : a case control study on a clinical, neurophysiological and biochemical characteristics
Autor Habekost, Clarissa Troller
Schestatsky, Pedro
Torres, Vitor Félix
Coelho, Daniella de Moura
Vargas, Carmen Regla
Torrez, Vitor Rocco
Oses, Jean Pierre
Portela, Luis Valmor Cruz
Pereira, Fernanda dos Santos
Matte, Ursula da Silveira
Jardim, Laura Bannach
Abstract Background: 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.
Contido em Orphanet journal of rare diseases. London. Vol. 9, no. 1 (Jan. 2014), [10 p.]
Assunto Adrenoleucodistrofia
Fosfopiruvato hidratase
Heterozigoto
Paraplegia
Potenciais evocados
[en] Evoked potentials
[en] JOA
[en] Nerve conduction
[en] Neuron-specific enolase
[en] Spastic paraplegia
[en] SSPROM
[en] X-ALD carriers
[en] X-ALD heterozygote females
[en] X inactivation
[en] X-linked adrenoleukodystrophy
Origem Estrangeiro
Tipo Artigo de periódico
URI http://hdl.handle.net/10183/110187
Arquivos Descrição Formato
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