Pathophysiology of motor dysfunction in a childhood motor neuron disease caused by mutations in the riboflavin transporter
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- 作者：Manoj P. Menezesa ; b ; c ; 1 ; Michelle A. Farrard ; e ; f ; 1 ; m.farrar@unsw.edu.au" class="auth_mail" title="E-mail the corresponding author ; Richard Webstera ; c ; Jayne Antonyc ; Katherine O&rsquo ; Brieng ; Robert Ouvriera ; b ; c ; Matthew C. Kiernane ; h ; Joshua Burnsa ; i ; j ; 2 ; Steve Vucick ; 2
- 关键词：Brown&ndash ; Vialetto&ndash ; Van Laere (BVVL) ; RFVT2 ; Riboflavin ; Nerve excitability
- 刊名：Clinical Neurophysiology
- 出版年：2016
- 出版时间：January 2016
- 年：2016
- 卷：127
- 期：1
- 页码：911-918
- 全文大小：883 K
文摘
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Nerve excitability studies in Brown–Vialetto–Van Laere syndrome due to RFVT2 deficiency suggest that an increase in myelin permeability underlies the motor nerve dysfunction.
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These abnormalities are partially reversed by riboflavin therapy.
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Nerve excitability studies may be further developed in larger cohorts as a potential biomarker to identify treatment response.