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

doi:10.1212/WNL.0000000000003823

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

School of Medicine

Research output: Contribution to journal › Short survey › peer-review

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)
Pages (from-to)	1478-1479
Number of pages	2
Journal	Neurology
Volume	88
Issue number	15
DOIs	https://doi.org/10.1212/WNL.0000000000003823
State	Published - Apr 11 2017

ASJC Scopus subject areas

Clinical Neurology

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title = "Early-onset head titubation in a child with Poretti-Boltshauser syndrome",

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",

author = "Riccardo Masson and Elena Piretti and Serena Pellegrin and Elena Gusson and Andrea Poretti and Valente, {Enza Maria} and Gaetano Cantalupo",

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language = "English (US)",

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T1 - Early-onset head titubation in a child with Poretti-Boltshauser syndrome

AU - Masson, Riccardo

AU - Piretti, Elena

AU - Pellegrin, Serena

AU - Gusson, Elena

AU - Poretti, Andrea

AU - Valente, Enza Maria

AU - Cantalupo, Gaetano

PY - 2017/4/11

Y1 - 2017/4/11

N2 - 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

AB - 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

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M3 - Short survey

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SP - 1478

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JO - Neurology

JF - Neurology

SN - 0028-3878

IS - 15

ER -

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

Abstract

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