High-frequency component in flash visual evoked potentials in type 3 Gaucher disease

Oguri, Masayoshi; Saito, Yoshiaki; Okanishi, Tohru; Matuura, Yuka; Akiyama, Shota; Ikeguchi, Takuya; Narita, Aya; Hirooka, Yasuaki; Maegaki, Yoshihiro

doi:10.1016/j.braindev.2019.08.005

Cited by 3 publications

(2 citation statements)

References 23 publications

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“…The flashing stimulus frequency for SSFVEP is usually more than 4 Hz, which is higher than that of the FVEP 8 . The stimulating of SSFVP could cause the visual cortex in the brain to generate periodic stimulation rhythms, and the corresponding evoked potentials are recorded at the occipital lobe 9 , 10 . Previously, a few studies applied SSFVEP to predict postoperative visual function in some cataract patients and showed promising results 11 .…”

Section: Introductionmentioning

confidence: 99%

SSFVEP as a potential electrophysiological examination for evaluating visual function of fundus diseases with vitreous hemorrhages: a clinical study

Yan,

He,

Chen

et al. 2024

Sci Rep

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To investigate the sensitivity and potential application of steady-state flash visual evoked potentials (SSFVEP) in assessing the visual function of fundus diseases with vitreous hemorrhage. 18 patients diagnosed with monocular vitreous hemorrhages in the fundus were examined the flash visual evoked potentials (FVEP) and SSFVEP in both eyes. The difference in the P2-wave amplitude of FVEP and the average amplitude of SSFVEP waveform between the diseased eyes and those without vitreous hemorrhage were statistically compared. There was no significant difference in the waveform of FVEP between both eyes. The amplitude of P2-wave from FVEP of the diseased eye was slightly lower than that without vitreous hemorrhage. However, the difference was not statistically significant (P = 0.111). The waveform of SSFVEP in the eye without vitreous hemorrhage showed a towering shape, while that of the diseased eye was flat. The average amplitude of SSFVEP in the diseased eye was statistically lower than that without vitreous hemorrhage (P = 0.036). The difference ratio of SSFVEP amplitude between both eyes was significantly greater than that of FVEP amplitude (P = 0.028). In some fundus diseases with vitreous hemorrhage, SSFVEP had a higher sensitivity than FVEP, providing a novel potential application for visual function assessment.

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Section: Introductionmentioning

confidence: 99%

SSFVEP as a potential electrophysiological examination for evaluating visual function of fundus diseases with vitreous hemorrhages: a clinical study

Yan,

He,

Chen

et al. 2024

Sci Rep

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“…Due to the deficiency of glucocerebrosidase (GCase) activity, glucosylceramide (GlcCer) accumulates in the lysosomes and is metabolized to produce glucosylsphingosine, sphingosine and then sphingosine-1-phosphate (S1P) ( Stirnemann et al, 2017 ). GD is characterized by enlargement of liver and spleen, lesions in the bones, and, in the most severe cases, neuropathology accompanied by neuroinflammation ( Dasgupta et al, 2015 ; Do et al, 2019 ; Oguri et al, 2020 ). According to the impairment of central nervous system function, there are three GD types ( Carubbi et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

et al. 2022

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Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which produces the glucocerebrosidase (GCase) protein. There are more than 500 mutations reported in GBA1, among which L444P (p.Leu444Pro) and F213I (p.Phe213Ile) are the most common in the Chinese population, while the function of F213I mutation remains elusive. This study aims to establish the GD mouse model of partially humanized Gba1 gene with F213I mutation. In vitro GCase activity assays showed that the product of partially humanized Gba1 gene, in which the mouse exons 5-7 were replace by the corresponding human exons, displayed similar activity with the wild-type mouse Gba1, while the F213I mutation in the humanized Gba1 led to significant decrease in enzyme activity. ES cell targeting was used to establish the mice expressing the partially humanized Gba1-F213I. Gba1F213I/+ mice did not show obviously abnormal phenotypes, but homozygous Gba1F213I/F213I mice died within 24 h after birth, whose epidermal stratum corneum were abnormal from the wild-type. The GCase activity in Gba1F213I/F213I mice greatly decreased. In conclusion, our results showed that the partially humanized GD mouse model with the F213I mutation was developed and homozygous F213I mutation is lethal for newborn mice.

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Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes

Daykin

Ryan

Sidransky

2021

Molecular Genetics and Metabolism

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High-frequency component in flash visual evoked potentials in type 3 Gaucher disease

Cited by 3 publications

References 23 publications

SSFVEP as a potential electrophysiological examination for evaluating visual function of fundus diseases with vitreous hemorrhages: a clinical study

SSFVEP as a potential electrophysiological examination for evaluating visual function of fundus diseases with vitreous hemorrhages: a clinical study

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation

Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes

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