Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

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Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

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作者：Efterpi Pavlidou^a ; ^{efterpi.pavlidou@gmail.com" class="auth_mail" title="E-mail the corresponding author} ; Vincenzo Salpietro^a ; ^b ; ^{salpietroenzo@yahoo.it" class="auth_mail" title="E-mail the corresponding author} ; Rahul Phadke^b ; ^{r.phadke@ucl.ac.uk" class="auth_mail" title="E-mail the corresponding author} ; Iain P. Hargreaves^b ; ^{iain.hargreaves@uclh.nhs.uk" class="auth_mail" title="E-mail the corresponding author} ; Leigh Batten^c ; ^{leigh.batten@tdlpathology.com" class="auth_mail" title="E-mail the corresponding author} ; Kenneth McElreavy^d ; ^{kenneth.mcelreavey@pasteur.fr" class="auth_mail" title="E-mail the corresponding author} ; Matthew Pitt^e ; ^f ; ^{Matthew.Pitt@gosh.nhs.uk" class="auth_mail" title="E-mail the corresponding author} ; Kshitij Mankad^e ; ^f ; ^{kshitij.mankad@gosh.nhs.uk" class="auth_mail" title="E-mail the corresponding author} ; Clare Wilson^g ; ^{clarewil25@yahoo.com" class="auth_mail" title="E-mail the corresponding author} ; Maria Concetta Cutrupi^h ; ^{mcutrupi@libero.it" class="auth_mail" title="E-mail the corresponding author} ; Martino Ruggieriⁱ ; ^{m.ruggieri@unict.it" class="auth_mail" title="E-mail the corresponding author} ; David McCormick^e ; ^j ; ^{davidmccormick@nhs.net" class="auth_mail" title="E-mail the corresponding author} ; Anand Saggar^e ; ^k ; ^{a.saggar@hspg.org.uk" class="auth_mail" title="E-mail the corresponding author} ; Maria Kinali^a ; ^e ; ^{m.kinali@imperial.ac.uk" class="auth_mail" title="E-mail the corresponding author}
关键词：Pontocerebellar hypoplasia ; SEPSECS ; Selenoprotein biosynthesis deficiency ; Optic nerve atrophy ; Mitochondrial myopathy
刊名：European Journal of Paediatric Neurology
出版年：2016
出版时间：May 2016
年：2016
卷：20
期：3
页码：483-488
全文大小：1640 K

文摘

class="label">•: Defects in gene SEPSECS are the main cause of pontocerebellar hypoplasia type 2D.
class="label">•: Treatment of PCH2D is symptomatic and palliative, while prognosis is guarded.
class="label">•: The present case of PCH2D has consisting myopathy with mild mitochondrial abnormalities and optic nerve atrophy, never before been reported.
class="label">•: These findings suggest a shared genetic background between PCH2D and optic nerve atrophy.
class="label">•: Also it is stressed the biological importance of selenoproteins in the regulation of neuronal and metabolic homeostasis.