Prospective, blind study of the triple stimulation technique in the diagnosis of ALS

Abstract Objective: To evaluate the diagnostic yield of magnetic cortical stimulation with the triple stimulation technique (TST) to identify upper motor neuron (UMN) involvement in patients suspected of having ALS. Methods: Fifty-nine patients were recruited to undergo TST in addition to the standard work-up for suspected motor neuron disease. TST combines transcranial magnetic stimulation of the motor cortex with collision studies, which results in a higher sensitivity in detecting UMN involvement. Primary outcome was the number of abnormal TST results in patients with possible ALS. The positivity rate was converted to the number needed to test with TST (NN-TST) for one extra diagnosis of ALS. Results: Fifty patients underwent TST. In the total group (n 059), 18 patients had a motor neuron disorder but did not fulfil criteria for 'probable' or 'definite' ALS. In four of these patients TST was abnormal (NN-TST, 4.5). One TST was erroneously interpreted as abnormal. TST findings were normal in inclusion body myositis and peripheral nerve disorders. Conclusion: This prospective and blind study confirms open studies of TST in the evaluation of ALS. We suggest that TST can be used to arrive at a diagnosis of 'probable' or 'definite' ALS in patients lacking UMN signs in the upper extremities

Causes and consequences of cerebral small vessel disease. The RUN DMC study: a prospective cohort study. Study rationale and protocol

Contains fulltext : 96704.pdf (publisher's version ) (Open Access)BACKGROUND: Cerebral small vessel disease (SVD) is a frequent finding on CT and MRI scans of elderly people and is related to vascular risk factors and cognitive and motor impairment, ultimately leading to dementia or parkinsonism in some. In general, the relations are weak, and not all subjects with SVD become demented or get parkinsonism. This might be explained by the diversity of underlying pathology of both white matter lesions (WML) and the normal appearing white matter (NAWM). Both cannot be properly appreciated with conventional MRI. Diffusion tensor imaging (DTI) provides alternative information on microstructural white matter integrity. The association between SVD, its microstructural integrity, and incident dementia and parkinsonism has never been investigated. METHODS/DESIGN: The RUN DMC study is a prospective cohort study on the risk factors and cognitive and motor consequences of brain changes among 503 non-demented elderly, aged between 50-85 years, with cerebral SVD. First follow up is being prepared for July 2011. Participants alive will be included and invited to the research centre to undergo a structured questionnaire on demographics and vascular risk factors, and a cognitive, and motor, assessment, followed by a MRI protocol including conventional MRI, DTI and resting state fMRI. DISCUSSION: The follow up of the RUN DMC study has the potential to further unravel the causes and possibly better predict the consequences of changes in white matter integrity in elderly with SVD by using relatively new imaging techniques. When proven, these changes might function as a surrogate endpoint for cognitive and motor function in future therapeutic trials. Our data could furthermore provide a better understanding of the pathophysiology of cognitive and motor disturbances in elderly with SVD. The execution and completion of the follow up of our study might ultimately unravel the role of SVD on the microstructural integrity of the white matter in the transition from "normal" aging to cognitive and motor decline and impairment and eventually to incident dementia and parkinsonism

A case report of phenytoin encephalopathy: Correlation between serum levels, seizure increase and E.E.G. spike and wave activity

In a case of phenytoin (PHT) encephalopathy a correlation was found between rising PHT serum levels and increase in seizure frequency. Supporting the correlation was the concomitant increase of E.E.G. spike and wave activity to 25% of the registration time. The rise in the PHT serum levels was possibly related to a drug interaction with carbamazepine. In addition neuropsychological assessment indicated reversible mental deterioration and deficits in motor skills and visual perceptio

ORIGINAL ARTICLE - Peripheral neuropathy in merosin-negative congenital muscular dystrophy

Peripheral neuropathy in patients with merosin-negative congenital muscular dystrophy (MN-CMD) has been sporadically investigated and has been considered to be motor and demyelinating in nature on the basis of nerve conduction studies. We performed neurophysiologic studies in 12 children with MN-CMD to establish the spectrum and evolution of peripheral nervous system involvement. In our patients, nerve conduction studies for both motor and sensory nerves were near normal in the children younger than six months and abnormal in the older children. The older children had the relatively slowest nerve conduction velocities suggesting a progressive, age-related dysmyelinating neuropathy. We hypothesize that the findings are due to a myelination arrest as a result of insufficient synthesis and maintenance of the peripheral myelin sheath. (J Pediatr Neurol 2004; 2(4): 213-218)

Muscle ultrasonography to predict survival in amyotrophic lateral sclerosis

International audienceWe assessed the prognostic value of muscle ultrasonography in 31 patients with amyotrophic lateral sclerosis (ALS) and compared it with accepted prognostic variables like functional capacity (measured with the ALSFRS-R rating scale) and muscle strength. Each patient was examined once. The following ultrasonography parameters were determined: muscle thickness, echo intensity (EI) and the presence of fasciculations. Correlations between baseline measurements, preslope values and survival were calculated. EI, disease duration, muscle strength preslope and ALSFRS-R preslope correlated with survival. Using a stepwise multivariate analysis, the combination of EI preslope and ALSFRS-R preslope was shown to have the best predictive value for survival

Quantitative muscle ultrasound and quadriceps strength in patients with post-polio syndrome

We investigated whether muscle ultrasound can distinguish muscles affected by post-polio syndrome (PPS) from healthy muscles and whether severity of ultrasound abnormalities is associated with muscle strength. Echo intensity, muscle thickness, and isometric strength of the quadriceps muscles were measured in 48 patients with PPS and 12 healthy controls. Patients with PPS had significantly higher echo intensity and lower muscle thickness than healthy controls. In patients, both echo intensity and muscle thickness were associated independently with muscle strength. A combined measure of echo intensity and muscle thickness was more strongly related to muscle strength than either parameter alone. Quantitative ultrasound distinguishes healthy muscles from those affected by PPS, and measures of muscle quality and quantity are associated with muscle strength. Hence, ultrasound could be a useful tool for assessing disease severity and monitoring changes resulting from disease progression or clinical intervention in patients with PP

The relation of fibromyalgia and fibromyalgia symptoms to self-reported seizures

Objective Several epidemiological and clinical reports associate fibromyalgia (FM) with seizure disorders, and clinical studies associate FM diagnosis with psychogenic non-epileptic seizures. However, these associations rely on self-reports of being diagnosed with FM or unstandardized clinical diagnosis in combination with small samples. We investigated the association of FM and self-reported seizures using a large rheumatic disease databank and the current established self-reported, symptom-based FM diagnostic criteria. Methods We selected a random observation from 11,378 subjects with rheumatoid arthritis (RA), 2,390 (21.0%) of whom satisfied 2016 revised criteria for FM. Patients were inquired about the presence of any kind of seizures in the previous 6 months, anti-epileptic medications, and patient-reported symptoms and outcomes. Results Seizures were reported by 89 RA patients who met FM criteria (FM+) and by 97 patients who did not (FM-), resulting in an age- and sex-adjusted seizure prevalence of 3.74 (95% CI 2.95 to 4.53) per 100 FM+ subjects and 1.08 (95% CI 0.87 to 1.30) in FM- subjects. The seizure odds ratio of FM+ to FM- cases was 3.54 (95% CI 2.65 to 4.74). Seizures were associated to a very similar degree with symptom reporting (somatic symptom count and comorbidity index) as to FM diagnosis variables. RA patients reporting seizures also reported worse pain, quality of life, and functional status. Seizure patients treated with anti-seizure medication had worse outcomes and more comorbidities than seizure patients with no seizure drugs. Conclusions We found a significant and similar association of both FM diagnostic variables and FMrelated symptom variables, including the number of symptoms and comorbidities, with self-reported seizures in people with RA. The observed association was similar to those found in previous studies of symptoms variables and seizures and does not suggest a unique role for fibromyalgia diagnosis. Rather, it suggests that multi-symptom comorbidity is linked to seizures in a complex and not yet clearly understood way. As the current study relied on selfreported seizures and was not able to distinguish between epileptic and psychogenic nonepileptic seizures, future studies are needed to replicate the findings using both validated FM criteria assessments and clinically verified diagnoses of epileptic and psychogenic seizures