📇 Rhumatologue · BRON CEDEX · (69) · Salarié

M Julian THEURIET

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3 raisons identifiées

Plateau technique de référence
Hospices Civils de Lyon (HCL) — équipements et expertise pointus pour les cas complexes
Praticien-chercheur
9 articles scientifiques publiés — formation continue solide
Délais de RDV courts dans la région
144.6 rhumatos / 100 000 hab. — département bien doté

Rhumatologue

📍 BRON CEDEX (69)SalariéRPPS 10101941861

Publications actives

29 publications sur 5 ans↗

📊 Reconnaissance scientifique : 8/100📝 31 articles publiés🇫🇷 Publications académiques françaises (8)

✨ Génération du profil synthétique IA en cours…

Thèses universitaires

Données ANS publiques (Licence Ouverte 2.0) · Enrichissements MonRhumato 100 % opt-in · Toute personne référencée peut demander la suppression ou la rectification.

Top publications · les plus citées

Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease

Journal of neurology · 2023

📚 14 citations🎯 RCR 2.57Top 20% NIH🔓 Open Access📄 PDF gratuit ↗

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AbstractBackgroundGlial fibrillary acidic protein (GFAP) is expressed by astrocytes in the central nervous system (CNS), but also by immature and regenerative Schwann cells in the peripheral nervous system (PNS). GFAP antibodies (GFAP-Abs) in cerebrospinal fluid (CSF) have been mainly described in patients with meningoencephalomyelitis. We aimed to study PNS symptoms in patients with CSF GFAP-Abs.MethodsWe retrospectively included all patients tested positive for GFAP-Abs in the CSF by immunohistochemistry and confirmed by cell-based assay expressing human GFAPα since 2017, from two French reference centers.ResultsIn a cohort of 103 CSF GFAP-Abs patients, 25 (24%) presented with PNS involvement. Among them, the median age at onset was 48 years and 14/25 (56%) were female. Abnormal electroneuromyography was observed in 11/25 patients (44%), including eight isolated radiculopathies, one radiculopathy associated with polyneuropathy, one radiculopathy associated with sensory neuronopathy, and one demyelinating polyradiculoneuropathy. Cranial nerve involvement was observed in 18/25 patients (72%). All patients except one had an associated CNS involvement. The first manifestation of the disease concerned the PNS in three patients. First-line immunotherapy was administered to 18/24 patients (75%). The last follow-up modified Rankin Scale was ≤ 2 in 19/23 patients (83%). Patients with PNS involvement had significantly more bladder dysfunction than patients with isolated CNS involvement (68 vs 40.3%,p = 0.031).ConclusionsPNS involvement in GFAP-Abs autoimmunity is heterogeneous but not rare and is mostly represented by acute or subacute cranial nerve injury and/or lower limb radiculopathy. Rarely, PNS involvement can be the first manifestation revealing the disease.

Novel Intronic Mutation in VMA21 Causing Severe Phenotype of X-Linked Myopathy with Excessive Autophagy-Case Report

Genes · 2022

📚 8 citations🔓 Open Access📄 PDF gratuit ↗

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X-linked Myopathy with Excessive Autophagy (XMEA) is a rare autophagic vacuolar myopathy caused by mutations in the Vacuolar ATPase assembly factor VMA21 gene; onset usually occurs during childhood and rarely occurs during adulthood. We described a 22-year-old patient with XMEA, whose onset was declared at 11 through gait disorder. He had severe four-limb proximal weakness and amyotrophy, and his proximal muscle MRC score was between 2 and 3/5 in four limbs; creatine kinase levels were elevated (1385 IU/L), and electroneuromyography and muscle MRI were suggestive of myopathy. Muscle biopsy showed abnormalities typical of autophagic vacuolar myopathy. We detected a hemizygous, unreported, intronic, single-nucleotide substitution c.164-20T>A (NM_001017980.4) in intron 2 of the VMA21 gene. Fibroblasts derived from this patient displayed a reduced level of VMA21 transcripts (at 40% of normal) and protein, suggesting a pathogenicity related to an alteration of the splicing efficiency associated with an intron retention. This patient with XMEA displayed a severe phenotype (rapid weakness of upper and lower limbs) due to a new intronic variant of VMA21, related to an alteration in the splicing efficiency associated with intron retention, suggesting that phenotype severity is closely related to the residual expression of the VMA21 protein.

Neuropathy in GAA-FGF14 Late-Onset Cerebellar Ataxia (SCA27B): Prevalence and Characteristics

European journal of neurology · 2025

📚 4 citations🔓 Open Access📄 PDF gratuit ↗

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ABSTRACTBackgroundThis study aimed to investigate the prevalence, characteristics, and determinants of peripheral neuropathy in a large cohort of patients affected by spinocerebellar ataxia type 27B (SCA27B), a late‐onset cerebellar ataxia caused by heterozygous GAA repeat expansions in the first intron of the FGF14 gene.MethodsA retrospective, multicenter study in which medical records of SCA27B patients diagnosed between January 2023 and July 2024 in 21 French ataxia/neurogenetic centers were reviewed. Those who had undergone electrodiagnostic study were included.ResultsAmong 332 SCA27B patients, 170 had undergone an electrodiagnostic study and were included. Forty‐two (25%) were diagnosed with neuropathy: 16 with length‐dependent axonal sensorimotor neuropathy, 24 with length‐dependent axonal sensory neuropathy, one with sensory, and one with motor neuronopathy. Neuropathy was associated with male sex, older age at electrodiagnostic study, and risk factors for neuropathy but not with GAA expansion sizes. Patients with neuropathy had more severe disability at the last visit (median SARA score 12 vs. 8, p = 0.0024).ConclusionsThe prevalence of neuropathy in SCA27B patients was similar to that reported in the elderly general population. Neuropathies were predominantly non‐specific length‐dependent axonal neuropathies, primarily driven by aging and known risk factors rather than the underlying genetic abnormality.

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M Julian THEURIET

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Thèses universitaires

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Publications académiques en France

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Top publications · les plus citées

Publications scientifiques (9) — classées par pathologie

Case report / série3

Transversal3

Épidémiologie & registres1

Génétique1

Revue générale1

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