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View article: Sural/Radial Amplitude Ratio: A Useful Tool to Diagnose Non‐Length‐Dependent Neuropathy
Sural/Radial Amplitude Ratio: A Useful Tool to Diagnose Non‐Length‐Dependent Neuropathy Open
Introduction/Aims Patients with non‐length‐dependent neuropathy (NLDN) exhibit reduced sensory nerve action potential (SNAP) amplitudes in both lower and upper limbs. This study aimed to determine a threshold for the sural/radial amplitude…
View article: Paraneoplastic Brachial Amyotrophic Diplegia With Favorable Outcome and Anti-Ank3 Antibodies
Paraneoplastic Brachial Amyotrophic Diplegia With Favorable Outcome and Anti-Ank3 Antibodies Open
We herein describe an original case of subacute-onset BAD/FAS with evidence of CSF inflammatory changes, autoantibodies of unknown significance, and simultaneous diagnosis of prostate cancer suggesting a possible paraneoplastic neurologica…
View article: Is the decrement pattern in myasthenia gravis due to muscle-specific kinase antibodies different to that due to acetylcholine receptor antibodies?
Is the decrement pattern in myasthenia gravis due to muscle-specific kinase antibodies different to that due to acetylcholine receptor antibodies? Open
Compared to AChR-MG, RNS in MuSK-MG showed fewer affected muscles, with less frequent involvement of anconeus and TA in particular; and a more progressive decrement pattern.
View article: Brain atrophy patterns in anti-IgLON5 disease
Brain atrophy patterns in anti-IgLON5 disease Open
Anti-IgLON5 disease is an autoimmune encephalitis that presents with a heterogenous clinical phenotype, including sleep disorders, movement abnormalities and bulbar involvement. It is characterised by autoantibodies against IgLON5, 85% ass…
View article: Application of the anti-IgLON5 disease composite score to assess severity, clinical course, and mortality in a French cohort
Application of the anti-IgLON5 disease composite score to assess severity, clinical course, and mortality in a French cohort Open
View article: Contralateral R1 response in blink reflex in patients with amyotrophic lateral sclerosis
Contralateral R1 response in blink reflex in patients with amyotrophic lateral sclerosis Open
View article: SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance Open
View article: A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis
A Novel De Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis Open
We investigate the etiology of amyotrophic lateral sclerosis (ALS) in a 35-year-old woman presenting with progressive weakness in her left upper limb. Prior to sequencing, a comprehensive neurological work-up was performed, including neuro…
View article: A Novel de Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis
A Novel de Novo Missense Mutation in KIF1A Associated with Young-Onset Upper-Limb Amyotrophic Lateral Sclerosis Open
Objectives: To investigate the etiology of amyotrophic lateral sclerosis (ALS) in an adult female patient. Methods: We conducted trio genome sequencing on a 35-year-old woman with progressive weakness in her left upper limb, as well as on …
View article: SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
SMCHD1 genetic variants in type 2 FacioScapuloHumeral dystrophy and challenges in predicting pathogenicity and disease penetrance. Open
The molecular diagnosis of type 1 FacioScapuloHumeral Dystrophy (FSHD1) relies on the detection of a shortened D4Z4 array at the 4q35 locus while until recently, the diagnosis of FSHD2 relied on the absence of a shortened D4Z4 allele in cl…
View article: Trigeminal Nerve Involvement in Bulbar-Onset Anti-IgLON5 Disease
Trigeminal Nerve Involvement in Bulbar-Onset Anti-IgLON5 Disease Open
In case of progressive atypical bulbar symptoms, the presence of a trigeminal neuropathy or trigeminal nerve abnormalities on MRI should encourage the testing of IgLON5-Abs in serum and CSF.
View article: Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease
Peripheral nervous system involvement accompanies central nervous system involvement in anti-glial fibrillary acidic protein (GFAP) antibody-related disease Open
Background Glial 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 cer…
View article: Unveiled central hypoventilation after tracheotomy in anti-IgLON5 disease: a case report
Unveiled central hypoventilation after tracheotomy in anti-IgLON5 disease: a case report Open