Pubblicazioni

Autori:

Masson, Riccardo; Guerra, Silvia; Cerini, Roberto; Pensato, V.; Gellera, C.; Taroni, F.; Simonati, Alessandro

Titolo:

Early white matter involvement in an infant carrying a novel mutation in ACOX1

Anno:

2016

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Formato:

A Stampa

Referee:

Sì

Nome rivista:

EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

ISSN Rivista:

1090-3798

N° Volume:

20

Numero o Fascicolo:

3

Editore:

Harcourt Publishers Limited:Foots Cray High Street, Sidcup Kent DA14 5HP United Kingdom:011 44 20 83085700, EMAIL: journals@harcourt.com, INTERNET: http://www.harcourt-international.com, Fax: 011 44 20 83085876

Intervallo pagine:

431-434

Parole chiave:

ACOX1 disease; Cerebellum; MRI; Peroxisomal disorders

Breve descrizione dei contenuti:

We describe the clinical findings and MRI features observed in a child who presented a two-step disease course: he was hypotonic at birth and soon afterwards developed seizures, which were partially responsive to treatment; he subsequently showed developmental delay and a progressive neurological deterioration with the onset of severe seizures at around three years of age. Head MRI at age 20 days was unremarkable, whereas at 25 months it showed bilateral hyperintensity of the deep cerebellar nuclei; five months later, the signal hyperintensity was also present in the cerebellar white matter and ventral pontine fibre tracts. Molecular analysis revealed a novel ACOX1 mutation, predicting a largely truncated protein. The white matter involvement, which followed an ascending trajectory from cerebellar and brainstem structures to the cerebral hemispheres, seemed to originate from the perinuclear white matter of the deep cerebellar nuclei.

Pagina Web:

http://dx.doi.org/10.1016/j.ejpn.2016.02.007

Id prodotto:

91704

Handle IRIS:

11562/939620

ultima modifica:

15 novembre 2022

Citazione bibliografica:

Masson, Riccardo; Guerra, Silvia; Cerini, Roberto; Pensato, V.; Gellera, C.; Taroni, F.; Simonati, Alessandro, Early white matter involvement in an infant carrying a novel mutation in ACOX1 «EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY» , vol. 20 , n. 3 , 2016 , pp. 431-434

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