Background
Ictal epileptic headache (IEH) is caused by a focal epileptic seizure. The diagnosis can be challenging when the headache is isolated without any other symptoms.
Case Report
A 16‐year‐old ...girl presented with a 5‐year history of bilateral frontotemporal headaches with severe intensity lasting for 1–3 min. Past medical, physical, and developmental histories were unremarkable. Head magnetic resonance imaging showed right hippocampal sclerosis. The diagnosis of pure IEH was confirmed by video‐electroencephalographic monitoring. The onset and cessation of frontal headache correlated with a right temporal discharge. The patient was diagnosed with right mesial temporal lobe epilepsy. Two years later, her seizures increased despite antiseizure medications. A right anterior temporal lobectomy was performed. The patient remained seizure‐free and headache‐free for 10 years.
Conclusion
IEH should be considered in the differential diagnosis of brief and isolated headache, even if the headache is diffuse or contralateral to the epileptogenic focus.
•New simpler Gold Coast diagnostic criteria for amyotrophic lateral sclerosis were validated.•The Gold Coast criteria have higher sensitivity with preserved specificity compared with revised El ...Escorial and Awaji criteria.•The Gold Coast criteria should be used in clinical practice and may be used for inclusion in trials.
This study evaluates diagnostic accuracy of the proposed ‘Gold Coast’ (GC) diagnostic criteria for amyotrophic lateral sclerosis (ALS).
Five European centres retrospectively sampled consecutive patients referred for electromyography on suspicion of ALS. Patients were classified according to the GC criteria, the revised El Escorial (rEE) criteria and the Awaji (AW) criteria without and with the ‘Possible’ category (+ Poss). Reference standard was ALS confirmed by disease progression at follow-up.
Of 404 eligible patients 272 were diagnosed as ALS, 94 had mimicking disorders, 35 were lost for follow-up, and three had insufficient data. Sensitivity for the GC criteria was 88.2% (95% CI: 83.8-91.8%), which was higher than for previous criteria, of which the AW + Poss criteria reached the highest sensitivity of 77.6% (95% CI: 72.2–82.4%) (p < 0.001). Specificity was high for all criteria. The increase in sensitivity for the GC criteria was mainly due to the inclusion of 28 patients with progressive muscular atrophy (PMA).
The simpler GC criteria increase the sensitivity, primarily due to considering PMA as a form of ALS with high specificity preserved.
This validation study supports that GC criteria should be used in clinical practice and may be used for inclusion in trials.
Introduction/Aims
Recent guidelines define chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) and possible CIDP. The aims of our study were to evaluate the value of diagnostic tests to ...support the diagnosis of CIDP in patients with possible CIDP and to identify prognostic factors of therapeutic success.
Methods
We conducted an observational retrospective two‐center study between 2014 and 2019. We selected patients with a clinical presentation suggesting CIDP, but whose electrodiagnostic (EDX) test results did not meet the EFNS/PNS 2021 criteria. We analyzed epidemiologic and clinical features, axonal loss on EDX, cerebrospinal fluid (CSF), somatosensory evoked potentials (SSEPs), plexus magnetic resonance imaging (MRI), nerve biopsy, and therapeutic response.
Results
We selected 75 patients, among whom 30 (40%) responded to treatment. The positivity rates of CSF analysis, MRI and SSEPs were not influenced by the clinical presentation or by the delay between symptom onset and medical assessment. A high protein level in CSF, female gender, and a relapsing–remitting course predicted the therapeutic response.
Discussion
It is important to properly diagnose suspected CIDP not meeting EFNS/PNS 2021 EDX criteria by using supportive criteria. Specific epidemiological factors and a raised CSF protein level predict a response to treatment. Further prospective studies are needed to improve diagnosis and the prognostic value of diagnostic tests in CIDP.
ABSTRACT
Introduction: Assessment of diaphragm compound muscle action potential by noninvasive phrenic nerve stimulation at the neck is well described. However, normal values in a large cohort of ...healthy subjects are lacking. Our objective was to determine reference values of phrenic nerve conduction in healthy subjects. Methods: We recruited 155 healthy subjects (25–79 years old) and measured mean amplitude (PhrenAmp) and latency (PhrenLat) of motor responses according to Bolton's method. Results: The lower limit for PhrenAmp was 0.28 and 0.25 mV and the upper limit for PhrenLat was 8.41 and 8.56 ms for right and left side, respectively. PhrenLat was correlated with age. PhrenAmp, PhrenLat and area were significantly higher in men. Tolerance to phrenic nerve stimulation was excellent. Conclusions: Our study provides normative values of phrenic nerve motor responses in a large cohort of healthy subjects and identifies age and sex as factors of variation. Muscle Nerve 59:451–456, 2019
Mutations in superoxide dismutase 1 gene (
, encoding copper/zinc superoxide dismutase protein, are the second most frequent high penetrant genetic cause for amyotrophic lateral sclerosis (ALS) motor ...neuron disease in populations of European descent. More than 200 missense variants are reported along the SOD1 protein. To limit the production of these aberrant and deleterious SOD1 species, antisense oligonucleotide approaches have recently emerged and showed promising effects in clinical trials. To offer the possibility to any patient with SOD1-ALS to benefit of such a gene therapy, it is necessary to ascertain whether any variant of unknown significance (VUS), detected for example in
non-coding sequences, is pathogenic.
We analysed SOD1 mutation distribution after SOD1 sequencing in a large cohort of 470 French familial ALS (fALS) index cases.
We identified a total of 27 SOD1 variants in 38 families including two SOD1 variants located in nearsplice or intronic regions of the gene. The pathogenicity of the c.358-10T>G nearsplice
variant was corroborated based on its high frequency (as the second most frequent SOD1 variant) in French fALS, the segregation analysis confirmed in eight affected members of a large pedigree, the typical SOD1-related phenotype observed (with lower limb onset and prominent lower motor neuron involvement), and findings on postmortem tissues showing SOD1 misaccumulation.
Our results highlighted nearsplice/intronic mutations in
are responsible for a significant portion of French fALS and suggested the systematic analysis of the
mRNA sequence could become the method of choice for
screening, not to miss these specific cases.
To evaluate the accuracy of the recently proposed diagnostic criteria for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS).
We enrolled 42 ...patients with hindbrain punctate and/or linear enhancements (<3 mm in diameter) and tested the CLIPPERS criteria.
After a median follow-up of 50 months (IQR 25-82), 13 out of 42 patients were CLIPPERS-mimics: systemic and central nervous system lymphomas (n=7), primary central nervous system angiitis (n=4) and autoimmune gliopathies (n=2). The sensitivity and specificity of the CLIPPERS criteria were 93% and 69%, respectively. Nodular enhancement ( ≥ 3 mm in diameter), considered as a red flag in CLIPPERS criteria, was present in 4 out of 13 CLIPPERS-mimics but also in 2 out of 29 patients with CLIPPERS, explaining the lack of sensitivity. Four out of 13 CLIPPERS-mimics who initially met the CLIPPERS criteria displayed red flags at the second attack with a median time of 5.5 months (min 3, max 18), explaining the lack of specificity. One of these four patients had antimyelin oligodendrocyte glycoprotein antibodies, and the three remaining patients relapsed despite a daily dose of prednisone/prednisolone ≥ 30 mg and a biopsy targeting atypical enhancing lesions revealed a lymphoma.
Our study highlights that (1) nodular enhancement should be considered more as an unusual finding than a red flag excluding the diagnosis of CLIPPERS; (2) red flags may occur up to 18 months after disease onset; (3) as opposed to CLIPPERS-mimics, no relapse occurs when the daily dose of prednisone/prednisolone is ≥ 30 mg; and (4) brain biopsy should target an atypical enhancing lesion when non-invasive investigations remain inconclusive.
Acquired sensory neuronopathies encompass a group of paraneoplastic, dysimmune, toxic or idiopathic disorders characterized by degeneration of peripheral sensory neurons in dorsal root ganglia. As ...dorsal root ganglia cannot easily be explored, the clinical diagnosis of these disorders may be difficult. The question as to whether there exists a common clinical pattern of sensory neuronopathies, allowing the establishment of validated and easy-to-use diagnostic criteria, has not yet been addressed. In this study, logistic regression was used to construct diagnostic criteria on a retrospective study population of 78 patients with sensory neuronopathies and 56 with other sensory neuropathies. For this, sensory neuronopathy was provisionally considered as unambiguous in 44 patients with paraneoplastic disorder or cisplatin treatment and likely in 34 with a dysimmune or idiopathic setting who may theoretically have another form of neuropathy. To test the homogeneity of the sensory neuronopathy population, likely candidates were compared with unambiguous cases and then the whole population was compared with the other sensory neuropathies population. Criteria accuracy was checked on 37 prospective patients referred for diagnosis of sensory neuropathy. In the study population, sensory neuronopathy showed a common clinical and electrophysiological pattern that was independent of the underlying cause, including unusual forms with only patchy sensory loss, mild electrical motor nerve abnormalities and predominant small fibre or isolated lower limb involvement. Logistic regression allowed the construction of a set of criteria that gave fair results with the following combination: ataxia in the lower or upper limbs + asymmetrical distribution + sensory loss not restricted to the lower limbs + at least one sensory action potential absent or three sensory action potentials <30% of the lower limit of normal in the upper limbs + less than two nerves with abnormal motor nerve conduction study in the lower limbs.
Background and purpose
Disease‐modifying therapies (DMTs) have an impact on relapses and disease progression. Nonetheless, many patients with multiple sclerosis (MS) remain untreated. The objectives ...of the present study were to determine the proportion of untreated patients with MS followed in expert centers in France and to determine the predictive factors of nontreatment.
Methods
We conducted a retrospective cohort study. Data were extracted from the 38 centers participating in the European Database for Multiple Sclerosis (EDMUS) on December 15, 2018, and patients with MS seen at least once during the study period (from June 15, 2016 to June 14, 2017) were included.
Results
Of the 21,189 patients with MS (age 47.1 ± 13.1 years; Expanded Disability Status Scale (EDSS) score 3.4 ± 2.4), 6,631 (31.3%; 95% confidence interval CI 30.7–31.9) were not receiving any DMT. Although patients with a relapsing‐remitting course (n = 11,693) were the most likely to receive DMT, 14.8% (95% CI 14.2–15.4) were still untreated (6.8% never treated). After multivariate analysis among patients with relapsing‐remitting MS, the main factors explaining never having been treated were: not having ≥9 lesions on brain magnetic resonance imaging (odds ratio OR 0.52 95% CI 0.44–0.61) and lower EDSS score (OR 0.78 95% CI 0.74–0.82). Most patients with progressive MS (50.4% for secondary and 64.2% for primary progressive MS) did not receive any DMT during the study period, while 11.6% of patients with secondary and 34.0% of patients with primary progressive MS had never received any DMT.
Conclusion
A significant proportion of patients with MS did not receive any DMT, even though such treatments are reimbursed by the healthcare system for French patients. This result highlights the unmet need for current DMTs for a large subgroup of patients with MS.
The objectives were to determine the proportion of untreated patients with multiple sclerosis (MS) followed in expert centers in France and to determine the predictive factors of non‐treatment. Among the 21,189 patients with MS, 31.3% were not receiving any disease‐modifying treatment and the most important predictive factor for not being treated was the disease course: 14.8% of patients with a relapsing‐remitting course were untreated, while 50.4% of those with secondary and 64.2% of those with primary progressive MS were untreated. After multivariate analysis among patients with relapsing‐remitting MS, the main factors explaining never having been treated were not having ≥9 lesions on brain magnetic resonance imaging and lower Expanded Disability Status Scale score.
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