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. Menezes^a ; ^b ; ^c ; ¹ ; Michelle A. Farrar^d ; ^e ; ^f ; ¹ ; ^{m.farrar@unsw.edu.au" class="auth_mail" title="E-mail the corresponding author} ; Richard Webster^a ; ^c ; Jayne Antony^c ; Katherine O&rsquo ; Brien^g ; Robert Ouvrier^a ; ^b ; ^c ; Matthew C. Kiernan^e ; ^h ; Joshua Burns^a ; ⁱ ; ^j ; ² ; Steve Vucic^k ; 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

<dl class="listitem" id="list_l0005"><dt class="label">•dt><dd>

d="p0005">Nerve excitability studies in Brown&ndash;Vialetto&ndash;Van Laere syndrome due to RFVT2 deficiency suggest that an increase in myelin permeability underlies the motor nerve dysfunction.

dd><dt class="label">•dt><dd>

d="p0010">These abnormalities are partially reversed by riboflavin therapy.

dd><dt class="label">•dt><dd>

d="p0015">Nerve excitability studies may be further developed in larger cohorts as a potential biomarker to identify treatment response.

dd>dl>