Electrophysiological Characterization of C9ORF72-Associated Amyotrophic Lateral Sclerosis: A Retrospective Study.

OBJECTIVE: C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS). The aim of the present study was to determine whether C9ORF72-associated ALS (C9-ALS) patients present distinctive electrophysiological characteristics that could differentiate them from non C9ORF72-associated ALS (nonC9-ALS) patients. METHODS: Clinical and electrodiagnostic data from C9-ALS patients and nonC9-ALS patients were collected retrospectively. For electroneuromyography, the mean values of motor conduction, myography, and the mean values of sensory conduction were considered. Furthermore, the proportion of ALS patients with electrophysiological sensory neuropathy was determined. RESULTS: No significant difference was observed between 31 C9-ALS patients and 22 nonC9-ALS patients for mean motor conduction and myography. For sensory conduction analyses, mean sensory conduction was not significantly different between both groups. In total, 38% of -C9-ALS patient and 21% of nonC9-ALS patients presented electrophysiological sensory neuropathy (p = 0.33). In -C9-ALS patients with electrophysiological sensory neuropathy, 80% (8/10) were male and 67% (6/9) presented spinal onset compare to 25% (4/16, p = 0.014) male and 25% (4/16, p = 0.087) with spinal onset in those without electrophysiological sensory neuropathy. CONCLUSION: Although not different from nonC9-ALS, these results suggest that sensory involvement is a frequent feature of C9-ALS patients, expanding the phenotype of the disease beyond the motor and cognitive domains.

Spinal cord hemorrhage in a patient with neurosarcoidosis on long-term corticosteroid therapy: case report.

BACKGROUND: Central nervous system bleeding is a rare complication of neurosarcoidosis: only 18 cases of spontaneous cerebral hematoma have been reported. We present the first recorded case of spinal cord hemorrhage in neurosarcoidosis. CASE PRESENTATION: A 48-year-old Caucasian woman had relapsing neurosarcoidosis for 5 years, with inflammatory spinal and cerebral lesions. While on 20 mg corticosteroids, she experienced subacute paraparesia with right leg pain. A spine MRI revealed a low thoracic hematomyelia at the T10-T11 level. Despite high doses of corticosteroids, her condition continued to worsen. Surgical evacuation of the hematoma was performed 10 days after the onset of bleeding, and she partially recovered. CONCLUSION: This report highlights the possibility of spinal cord hemorrhage secondary to sarcoid vasculitis. The patient improved after surgical evacuation of the intramedullary hematoma. Immuno-modulating agents must be envisaged in severe neurosarcoidosis, to prevent complications.

Impact of automatic tools for detecting new lesions on therapeutic strategies offered to patients with MS by neurologists.

BACKGROUND: Automatic tools for detecting new lesions in patients with MS between two MRI scans are now available to clinicians. They have been assessed from the radiologist's point of view, but their impact on the therapeutic strategies that neurologists offer their patients has not yet been documented. OBJECTIVES: To compare neurologist's decisions according to whether a lesion detection support system had been used and describe variability between neurologists on decision-making for the same clinical cases. METHODS: We submitted 28 clinical cases associated with pairs of MRI images and radiological reports (produced by the same radiologist without vs. with the help of a system to detect new lesions) to 10 neurologists who regularly follow patients with MS. They examined each clinical case twice (without vs. with support system) in two sessions several weeks apart, and their patient management decisions were recorded. RESULTS: There was considerable variability between neurologists on decision-making (both with and without support system). When the support system had been used, neurologists more often made changes to patient management (75 % vs. 68 % of cases, p = 0.01) and spent significantly less time analyzing the clinical cases (249 s vs. 216 s, p == 3.10-4). CONCLUSION: The use of a lesion detection support system has an impact not only on radiologists' reports, but also on neurologists' subsequent decision-making. This observation constitutes another strong argument for promoting the wider use of such systems in clinical routine. However, despite their use, there is still considerable variability in decision-making across neurologists, which should encourage us to refine the guidelines.