Abstract
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 language | English (US) |
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Pages (from-to) | 1478-1479 |
Number of pages | 2 |
Journal | Neurology |
Volume | 88 |
Issue number | 15 |
DOIs | |
State | Published - Apr 11 2017 |
ASJC Scopus subject areas
- Clinical Neurology