Pubblicazioni

Autori:

Masson, Riccardo; Piretti, Elena; Pellegrin, Serena; Gusson, Elena; Poretti, Andrea; Valente, Enza Maria; Cantalupo, Gaetano

Titolo:

Early-onset head titubation in a child with Poretti-Boltshauser syndrome

Anno:

2017

Tipologia prodotto:

Articolo in Rivista

Tipologia ANVUR:

Articolo su rivista

Lingua:

Inglese

Referee:

Sì

Nome rivista:

NEUROLOGY

ISSN Rivista:

0028-3878

N° Volume:

88

Numero o Fascicolo:

15

Intervallo pagine:

1478-1479

Parole chiave:

vestibulo-ocular reflex (VOR); LAMA1; cerebellar dysplasia; cerebellar cysts; pseudopendular nystagmus

Breve descrizione dei contenuti:

Poretti-Boltshauser syndrome (PBS) is a recently described cerebellar disorder characterized by cerebellar dysplasia with cysts and an enlarged and square-like shaped fourth ventricle.1 The clinical phenotype includes nonprogressive cerebellar ataxia, ocular motor apraxia (OMA), intellectual disability, and frequent high myopia or retinal dystrophy.1 Mutations in LAMA1 have been identified as the cause of PBS.2 We report on a 30-month-old girl with genetically confirmed PBS (who has also been included in a recently published series 3), presenting at 2 months of age with head titubation, a movement disorder that has never been reported in association with PBS. To our knowledge, she is the youngest patient with this condition who has been described in the literature.

Id prodotto:

97113

Handle IRIS:

11562/960894

ultima modifica:

15 novembre 2022

Citazione bibliografica:

Masson, Riccardo; Piretti, Elena; Pellegrin, Serena; Gusson, Elena; Poretti, Andrea; Valente, Enza Maria; Cantalupo, Gaetano, Early-onset head titubation in a child with Poretti-Boltshauser syndrome «NEUROLOGY» , vol. 88 , n. 15 , 2017 , pp. 1478-1479

Consulta la scheda completa presente nel repository istituzionale della Ricerca di Ateneo