Publications by authors named "Cédric Gollion"

9 Publications

  • Page 1 of 1

Heterozygous HTRA1 nonsense or frameshift mutations are pathogenic.

Brain 2021 Oct;144(9):2616-2624

AP-HP, Service de Génétique Moléculaire Neurovasculaire, Hôpital Saint-Louis, France.

Heterozygous missense HTRA1 mutations have been associated with an autosomal dominant cerebral small vessel disease (CSVD) whereas the pathogenicity of heterozygous HTRA1 stop codon variants is unclear. We performed a targeted high throughput sequencing of all known CSVD genes, including HTRA1, in 3853 unrelated consecutive CSVD patients referred for molecular diagnosis. The frequency of heterozygous HTRA1 mutations leading to a premature stop codon in this patient cohort was compared with their frequency in large control databases. An analysis of HTRA1 mRNA was performed in several stop codon carrier patients. Clinical and neuroimaging features were characterized in all probands. Twenty unrelated patients carrying a heterozygous HTRA1 variant leading to a premature stop codon were identified. A highly significant difference was observed when comparing our patient cohort with control databases: gnomAD v3.1.1 [P = 3.12 × 10-17, odds ratio (OR) = 21.9], TOPMed freeze 5 (P = 7.6 × 10-18, OR = 27.1) and 1000 Genomes (P = 1.5 × 10-5). Messenger RNA analysis performed in eight patients showed a degradation of the mutated allele strongly suggesting a haploinsufficiency. Clinical and neuroimaging features are similar to those previously reported in heterozygous missense mutation carriers, except for penetrance, which seems lower. Altogether, our findings strongly suggest that heterozygous HTRA1 stop codons are pathogenic through a haploinsufficiency mechanism. Future work will help to estimate their penetrance, an important information for genetic counselling.
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http://dx.doi.org/10.1093/brain/awab271DOI Listing
October 2021

Brain Vessel Wall Contrast Enhancement Without Arterial Stenosis: Probable Primary CNS Vasculitis.

Neurol Clin Pract 2021 Apr 5;11(2):e193-e195. Epub 2020 Mar 5.

Department of Neurology (CG, MM, VL), University Hospital of Toulouse, France; ToNIC (CG, FB, VL), Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS; and Department of Neuroradiology (JD, FB), University Hospital of Toulouse, France.

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http://dx.doi.org/10.1212/CPJ.0000000000000825DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8032444PMC
April 2021

Cardiac sources of cerebral embolism in people with migraine.

Eur J Neurol 2021 04 6;28(4):e29. Epub 2021 Feb 6.

Department of Neurology, University of Toulouse, Toulouse, France.

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http://dx.doi.org/10.1111/ene.14739DOI Listing
April 2021

Left Atrial Function in Young Patients With Cryptogenic Stroke and Patent Foramen Ovale: A Left Atrial Longitudinal Strain Study.

Front Neurol 2020 5;11:536612. Epub 2020 Nov 5.

Medical School, Toulouse III Paul Sabatier University, Toulouse, France.

The study of left atrial (LA) longitudinal strain by speckle tracking is a reliable method for analyzing LA function that could provide relevant information in young patients with cryptogenic stroke (CS). The aim of this study was to investigate whether the presence of a patent foramen ovale (PFO) impacts the LA longitudinal strain in a population of young patients with first CS. Patients aged 18 to 54 years, treated consecutively in a university hospital for first CS, were included in this study. The presence of a PFO and an atrial septal aneurysm (ASA) was investigated using transesophageal echocardiography and transcranial Doppler. Speckle tracking analysis was performed on transthoracic echocardiography, allowing the measurement of global, passive, and active longitudinal LA strain, corresponding to the reservoir, conduit, and contractile function, respectively. A total of 51 patients were included in the study. In a multivariable analysis, overweight was associated with reduced global and passive LA longitudinal strain ( = 0.013 and = 0.018, respectively), and hypertension was associated with reduced active LA longitudinal strain ( = 0.049). LA longitudinal strain was not different between patients with PFO or PFO plus ASA and patients without PFO. LA longitudinal strain in young subjects with CS was impaired in the presence of overweight and hypertension, but not of PFO or PFO plus ASA.
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http://dx.doi.org/10.3389/fneur.2020.536612DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7674925PMC
November 2020

Atrial fibrillation and migraine with aura in young adults with ischemic stroke.

Cephalalgia 2021 03 17;41(3):375-382. Epub 2020 Nov 17.

Department of Neurology, University of Toulouse, Toulouse, France.

Background: Migraine is associated with an increased risk of ischemic stroke. The associations are stronger in migraine with aura than in migraine without aura, in women than in men, and in younger subjects. However, the mechanisms by which migraine might increase the risk of ischemic stroke are debated.

Methods: We analysed the associations between migraine without aura and migraine with aura and the causes of ischemic stroke in patients aged 18-54 years treated consecutively in a university hospital stroke center.

Results: A total of 339 patients (mean/SD age 43.8/8.8 years, 62.83% male) were included. Migraine with aura was diagnosed in 58 patients, and migraine without aura in 54 patients. Patients with migraine with aura were younger and had fewer traditional cardiovascular risk factors than patients with no migraine. Migraine with aura was strongly associated with atrial fibrillation (odds ratio, 5.08; 95% confidence interval, 1.24-21.92;  = 0.011) and negatively associated with atherosclerosis (odds ratio, 0.29; 95% confidence interval, 0.05-0.97;  = 0.033) and small vessel disease (odds ratio, 0.13; 95% confidence interval, 0.00-0.87;  = 0.022). No other cause of stroke was significantly associated with migraine. The most common cause of stroke was atherosclerosis in no-migraine patients, dissection in migraine without aura patients and patent foramen ovale in migraine with aura patients. Atrial fibrillation was, together with dissection, the second leading cause of stroke in migraine with aura patients, accounting for 10.34% of cases in this subgroup.

Conclusion: We showed that atrial fibrillation was a common cause of ischemic stroke in young adults with migraine with aura.
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http://dx.doi.org/10.1177/0333102420970880DOI Listing
March 2021

Neuromelanin Locus Coeruleus MRI Contrast in Migraine With Aura.

Headache 2020 04 17;60(4):752-760. Epub 2020 Feb 17.

ToNIC, Toulouse NeuroImaging Center, University of Toulouse, Inserm, UPS, Toulouse, France.

Introduction: The locus coeruleus (LC) is one of the brainstem nuclei that may be activated during migraine attack. As LC contains neuromelanin, a by-product of norepinephrine synthesis, it can be delineated in vivo using neuromelanin sensitive magnetic resonance imaging (MRI). The neuromelanin content in LC has been suggested to reflect previous LC activation. We investigated LC MRI contrast in patients with migraine with aura (MWA) and its correlation with migraine features.

Methods: This matched cohort study compared 23 MWA patients aged 30-55 and without comorbidity, to 23 sex- and age-matched healthy controls. The study was conducted in a University Hospital. LC contrast was measured with T1 neuromelanin-sensitive-weighted 3T MRI. Voxels were manually selected by 2 independent researchers and comparison was made twice using intersection and union of the voxels selected by the 2 observers.

Results: No difference was found in neuromelanin LC contrast between MWA patients and controls with both the INTER method (0.224 ± 0.042 vs 0.228 ± 0.048; difference: 0.0001 (95%CI: -0.032 to 0.026), P = .799) and UNION method (0.218 ± 0.043 vs 0.222 ± 0.047; difference: -0.0012 (95%CI: -0.031 to 0.026), P = .775). Global LC volume was also similar between the 2 groups with INTER method (15.087 ± 3.965 vs 13.739 ± 3.583; difference: 2 (95%CI: -1 to 4), P = .233) and UNION method (17.522 ± 4.440 vs 16.087 ± 4.274; difference: 1 (95%CI: -2 to 4), P = .270). Moreover, no correlations were found between neuromelanin LC contrast and migraine features (duration of migraine and frequency of attacks).

Conclusion: These negative findings do not support the use of neuromelanin LC contrast as a biomarker of MA.
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http://dx.doi.org/10.1111/head.13771DOI Listing
April 2020

Reversible myoclonus-ataxia encephalitis related to anti-mGLUR1 autoantibodies.

Mov Disord 2019 03 13;34(3):438-439. Epub 2019 Feb 13.

Department of Neurology, University Hospital of Toulouse, Toulouse, France.

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http://dx.doi.org/10.1002/mds.27634DOI Listing
March 2019

Cerebral autoregulation in migraine with aura: A case control study.

Cephalalgia 2019 04 8;39(5):635-640. Epub 2018 Oct 8.

1 Department of Neurology, University Hospital of Toulouse, Toulouse, France.

Background: Migraine with aura is independently associated with increased risk of ischemic stroke, especially in younger subjects. This association might be related to an impairment of cerebral autoregulation, which normally maintains cerebral blood flow independent of arterial blood pressure variations.

Methods: Patients aged 30-55, fulfilling ICHD-3 beta criteria for migraine with aura, were prospectively enrolled and compared with gender- and age-matched healthy controls without a history of migraine. Patients and controls with a history of stroke or any disease potentially impairing cerebral autoregulation were excluded. We assessed cerebral autoregulation with two different methods: Transfer function analysis, and the correlation coefficient index Mx. The transfer function phase and gain reflect responses of cerebral blood flow velocities to relatively fast fluctuations of arterial blood pressure, whereas Mx also reflects responses to slower arterial blood pressure fluctuations.

Results: A total of 22 migraine with aura patients (median age [IQR]: 39.5 [12.5] years) and 22 controls (39 [9.75] years) were included. Transfer function parameters and Mx were not different between patients and controls. However, Mx was inversely correlated with age in patients (ρ = -0.567, p = 0.006) and not in controls (ρ = -0.084, p = 0.509). Mx was also inversely correlated with migraine with aura duration (ρ = -0.617, p = 0.002), suggesting improvement of cerebral autoregulation efficiency with disease duration.

Conclusions: Cerebral autoregulation did not differ between patients and controls aged 30-55. However, cerebral autoregulation efficiency was strongly correlated with migraine with aura duration. Further studies in younger patients are needed to determine whether cerebral autoregulation is impaired early in the course of disease.

Trial Registration: NCT02708797.
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http://dx.doi.org/10.1177/0333102418806861DOI Listing
April 2019
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