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

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

Research output: Contribution to journalShort surveypeer-review

2 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1478-1479
Number of pages2
Issue number15
StatePublished - Apr 11 2017

ASJC Scopus subject areas

  • Clinical Neurology


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