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 survey


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

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


ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Masson, R., Piretti, E., Pellegrin, S., Gusson, E., Poretti, A., Valente, E. M., & Cantalupo, G. (2017). Early-onset head titubation in a child with Poretti-Boltshauser syndrome. Neurology, 88(15), 1478-1479. https://doi.org/10.1212/WNL.0000000000003823