Effects ofSYN1Q555Xmutation on cortical gray matter microstructure

Cabana, Jean-François; Gilbert, Guillaume; Létourneau-Guillon, Laurent; Safi, Dima; Rouleau, Isabelle; Cossette, Patrick; Nguyen, Dang Khoa

doi:10.1002/hbm.24186

Cited by 7 publications

(2 citation statements)

References 113 publications

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“…81 Billiet and colleagues 82 found reduced ND in the "unidentified bright objects" in neurofibromatosis type 1. Other studies focused on perinatal encephalopathy, 83 SYN1Q555X mutation, 84 C9orf72 disease, 85 and sarcoma survivors. 86 Spine NODDI is also feasible for evaluating the human spinal cord.…”

Section: Other Brain Disordersmentioning

confidence: 99%

Neurite orientation and dispersion density imaging: clinical utility, efficacy, and role in therapy

Sone¹

2019

RMI

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In the field of diffusion magnetic resonance imaging (MRI) for neuroimaging, white matter tracts have traditionally been analyzed using diffusion tensor imaging (DTI) measures, such as fractional anisotropy. However, recent advances in diffusion MRI have provided further information on brain microstructures using multi-shell protocols of diffusion MRI. Neurite orientation dispersion and density imaging (NODDI) is one such emerging advanced diffusion MRI method that enables investigation of the neurite density and neurite orientation dispersion of brain microstructures. NODDI was developed as a practical and clinically feasible diffusion MRI technique to evaluate the microstructural complexity of dendrites and axons. This review shed light on recent studies on the use of NODDI in human brain. Indeed, a growing number of studies are using NODDI to examine neurological and psychiatric disorders, with most reporting its clinical utility. The time has thus come, for us to seriously consider the clinical use of NODDI.

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Section: Other Brain Disordersmentioning

confidence: 99%

Neurite orientation and dispersion density imaging: clinical utility, efficacy, and role in therapy

Sone¹

2019

RMI

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“…Here, we focus on the X-linked gene SYN1. Pathogenic variants in this gene have been recurrently reported in individual cases and families ( Garcia et al 2004 ; Fassio et al 2011 ; Guarnieri et al 2017 ; Xiong et al 2021 ; Zhou et al 2021 ; Butler et al 2017 ; Lindy et al 2018 ; Nguyen et al 2015 ; Rossi et al 2017 ; Peron et al 2018 ; Fernandez-Marmiesse et al 2019 ; Darvish et al 2020 ; Ibarluzea et al 2020 ; Mojarad et al 2021 ; van der Ven et al 2021 ; Stranneheim et al 2021 ; Yang et al 2020 ; Cabana et al 2018 ). Epilepsy, learning disabilities, speech delay, intellectual disability (ID), and autism spectrum disorder (ASD) are the most frequent clinical manifestations associated with SYN1 variants ( Longhena et al 2021 ; John et al 2021 ; Accogli et al 2021 ), but an extensive comparison of the clinical features and genotype-phenotype correlations are missing.…”

Section: Introductionmentioning

confidence: 99%

The different clinical facets of SYN1-related neurodevelopmental disorders

Parenti

Leitão

Kuechler

et al. 2022

Front. Cell Dev. Biol.

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Synapsin-I (SYN1) is a presynaptic phosphoprotein crucial for synaptogenesis and synaptic plasticity. Pathogenic SYN1 variants are associated with variable X-linked neurodevelopmental disorders mainly affecting males. In this study, we expand on the clinical and molecular spectrum of the SYN1-related neurodevelopmental disorders by describing 31 novel individuals harboring 22 different SYN1 variants. We analyzed newly identified as well as previously reported individuals in order to define the frequency of key features associated with these disorders. Specifically, behavioral disturbances such as autism spectrum disorder or attention deficit hyperactivity disorder are observed in 91% of the individuals, epilepsy in 82%, intellectual disability in 77%, and developmental delay in 70%. Seizure types mainly include tonic-clonic or focal seizures with impaired awareness. The presence of reflex seizures is one of the most representative clinical manifestations related to SYN1. In more than half of the cases, seizures are triggered by contact with water, but other triggers are also frequently reported, including rubbing with a towel, fever, toothbrushing, fingernail clipping, falling asleep, and watching others showering or bathing. We additionally describe hyperpnea, emotion, lighting, using a stroboscope, digestive troubles, and defecation as possible triggers in individuals with SYN1 variants. The molecular spectrum of SYN1 variants is broad and encompasses truncating variants (frameshift, nonsense, splicing and start-loss variants) as well as non-truncating variants (missense substitutions and in-frame duplications). Genotype-phenotype correlation revealed that epileptic phenotypes are enriched in individuals with truncating variants. Furthermore, we could show for the first time that individuals with early seizures onset tend to present with severe-to-profound intellectual disability, hence highlighting the existence of an association between early seizure onset and more severe impairment of cognitive functions. Altogether, we present a detailed clinical description of the largest series of individuals with SYN1 variants reported so far and provide the first genotype-phenotype correlations for this gene. A timely molecular diagnosis and genetic counseling are cardinal for appropriate patient management and treatment.

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Electro‐Clinical Features and Functional Connectivity Analysis in SYN1‐Related Epilepsy

Moya Quiros,

Adham,

Convers

et al. 2024

Annals of Neurology

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ObjectiveThere is currently scarce data on the electroclinical characteristics of epilepsy associated with synapsin 1 (SYN1) pathogenic variations. We examined clinical and electro‐encephalographic (EEG) features in patients with epilepsy and SYN1 variants, with the aim of identifying a distinctive electroclinical pattern.MethodsIn this retrospective multicenter study, we collected and reviewed demographic, genetic, and epilepsy data of 19 male patients with SYN1 variants. Specifically, we analyzed interictal EEG data for all patients, and electro‐clinical data from 10 epileptic seizures in 5 patients, using prolonged video‐EEG monitoring recordings. Inter‐ictal EEG functional connectivity parameters and frequency spectrum of the 10 patients over 12 years of age, were computed and compared with those of 56 age‐ and sex‐matched controls.ResultsThe main electroclinical features of epilepsy in patients with SYN1 were (1) EEG background and organization mainly normal; (2) interictal abnormalities are often rare or not visible on EEG; (3) more than 60% of patients had reflex seizures (cutaneous contact with water and defecation being the main triggers) isolated or associated with spontaneous seizures; (4) electro‐clinical semiology of seizures was mainly temporal or temporo‐insulo/perisylvian with a notable autonomic component; and (5) ictal EEG showed a characteristic rhythmic theta/delta activity predominating in temporo‐perisylvian regions at the beginning of most seizures. Comparing patients with SYN1 to healthy subjects, we observed a shift to lower frequency bands in power spectrum of interictal EEG and an increased connectivity in both temporal regions.InterpretationA distinct epilepsy syndrome emerges in patients with SYN1, with a rather characteristic clinical and EEG pattern suggesting predominant temporo‐insular involvement. ANN NEUROL 2024

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Effects ofSYN1_Q555Xmutation on cortical gray matter microstructure

Cited by 7 publications

References 113 publications

<p>Neurite orientation and dispersion density imaging: clinical utility, efficacy, and role in therapy</p>

<p>Neurite orientation and dispersion density imaging: clinical utility, efficacy, and role in therapy</p>

The different clinical facets of SYN1-related neurodevelopmental disorders

Electro‐Clinical Features and Functional Connectivity Analysis in SYN1‐Related Epilepsy

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