Central Nervous System Complications in Cystinosis: The Role of Neuroimaging

Boisgontier, Jennifer; Saitovitch, Ana; Hummel, Aurélie; Boddaert, Nathalie

doi:10.3390/cells11040682

Cited by 4 publications

(2 citation statements)

References 54 publications

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“…Performing computed tomography (CT) imaging during SLEs could reveal calcifications located in the area of the hippocampus. Cortical or central atrophy is also observed but is not correlated with symptoms [ 78 , 79 , 80 ] ( Table 3 ) [ 2 , 74 , 75 , 76 , 77 , 78 , 79 , 80 ].…”

Section: Resultsmentioning

confidence: 99%

Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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Stroke-like episodes (SLEs) are significant clinical manifestations of metabolic disorders affecting the central nervous system. Morphological equivalents presented in neuroimaging procedures are described as stroke-like lesions (SLLs). It is crucial to distinguish SLEs from cerebral infarction or intracerebral hemorrhage, mainly due to the variety in management. Another significant issue to underline is the meaning of the main pathogenetic hypotheses in the development of SLEs. The diagnostic process is based on the patient’s medical history, physical and neurological examination, neuroimaging techniques and laboratory and genetic testing. Implementation of treatment is generally symptomatic and includes L-arginine supplementation and adequate antiepileptic management. The main aim of the current review was to summarize the basic and actual knowledge about the occurrence of SLEs in various inherited neurometabolic disorders, discuss the possible pathomechanism of their development, underline the role of neuroimaging in the detection of SLLs and identification of the electroencephalographic patterns as well as histological abnormalities in inherited disorders of metabolism.

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Section: Resultsmentioning

confidence: 99%

Stroke-like Episodes in Inherited Neurometabolic Disorders

2022

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“…Subcortical and cortical atrophy, Chiari I malformation, white matter abnormalities, and atypical electrophysiological (EEG) activity are among the neurological findings described in individuals with cystinosis (6)(7)(8)(9)(10)(11)(12). These findings may account for some of the differences in cognitive function and academic performance reported in this population (13)(14)(15)(16)(17)(18)(19)(20)(21)(22).…”

Section: Introductionmentioning

confidence: 94%

Response inhibition and error-monitoring in cystinosis (CTNS gene mutations): Behavioral and electrophysiological evidence of a diverse set of difficulties

Francisco

Foxe

Berruti

et al. 2023

Preprint

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Cystinosis, a rare lysosomal storage disease, is characterized by cystine crystallization and accumulation within tissues and organs, including the kidneys and brain. Its impact on neural function appears mild relative to its effects on other organs, but therapeutic advances have led to substantially increased life expectancy, necessitating deeper understanding of its impact on neurocognitive function. Behaviorally, some deficits in executive function have been noted in this population, but the underlying neural processes are not understood. Using standardized cognitive assessments and a Go/No-Go response inhibition task in conjunction with high-density electrophysiological recordings (EEG), we sought to investigate the behavioral and neural dynamics of inhibition of a prepotent response and of error monitoring (critical components of executive function) in individuals with cystinosis, when compared to age-matched controls. Thirty-seven individuals diagnosed with cystinosis (7-36 years old, 24 women) and 45 age-matched controls (27 women) participated in this study. Analyses focused on N2 and P3 No-Go responses and error-related positivity (Pe). Atypical inhibitory processing was shown behaviorally. Electrophysiological differences were additionally found between the groups, with individuals with cystinosis showing larger No-Go P3s. Error-monitoring was likewise different between the groups, with those with cystinosis showing reduced Pe amplitudes.

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