Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease

Giulia Perucca; Bruno P. Soares; Serena Staglianò; James Davison; Anupam Chakrapani; Felice D’Arco

doi:10.1007/s00234-018-2116-z

Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease

Giulia Perucca, Bruno P. Soares, Serena Staglianò, James Davison, Anupam Chakrapani, Felice D’Arco

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Gaucher disease (GD) represents the most common lysosomal storage defect. It is classified into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute/chronic neuronopathic. Although children affected by GD may present with a broad spectrum of neurological signs, brain magnetic resonance imaging (MRI) findings are usually normal or non-specific. We report three cases of GD with previously undescribed brain MRI changes mainly affecting the thalami and/or the dentate nuclei. We discuss the possible etiopathogenesis of these abnormalities. Correlation between brain MRI abnormalities, neurological symptoms, and treatment efficacy is still unclear.

Original language	English (US)
Pages (from-to)	1353-1356
Number of pages	4
Journal	Neuroradiology
Volume	60
Issue number	12
DOIs	https://doi.org/10.1007/s00234-018-2116-z
State	Published - Dec 1 2018
Externally published	Yes

Keywords

Brain
Diffusion-weighted imaging
Gaucher disease
Lysosomal storage disorders
Magnetic resonance imaging

ASJC Scopus subject areas

Radiology Nuclear Medicine and imaging
Clinical Neurology
Cardiology and Cardiovascular Medicine

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10.1007/s00234-018-2116-z

Cite this

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abstract = "Gaucher disease (GD) represents the most common lysosomal storage defect. It is classified into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute/chronic neuronopathic. Although children affected by GD may present with a broad spectrum of neurological signs, brain magnetic resonance imaging (MRI) findings are usually normal or non-specific. We report three cases of GD with previously undescribed brain MRI changes mainly affecting the thalami and/or the dentate nuclei. We discuss the possible etiopathogenesis of these abnormalities. Correlation between brain MRI abnormalities, neurological symptoms, and treatment efficacy is still unclear.",

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AU - Perucca, Giulia

AU - Soares, Bruno P.

AU - Staglianò, Serena

AU - Davison, James

AU - Chakrapani, Anupam

AU - D’Arco, Felice

PY - 2018/12/1

Y1 - 2018/12/1

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AB - Gaucher disease (GD) represents the most common lysosomal storage defect. It is classified into three phenotypes: type 1 non-neuronopathic, type 2 acute neuronopathic, and type 3 subacute/chronic neuronopathic. Although children affected by GD may present with a broad spectrum of neurological signs, brain magnetic resonance imaging (MRI) findings are usually normal or non-specific. We report three cases of GD with previously undescribed brain MRI changes mainly affecting the thalami and/or the dentate nuclei. We discuss the possible etiopathogenesis of these abnormalities. Correlation between brain MRI abnormalities, neurological symptoms, and treatment efficacy is still unclear.

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KW - Lysosomal storage disorders

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Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease

Abstract

Keywords

ASJC Scopus subject areas

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