Journal of neurology
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Journal of neurology · Nov 2013
Randomized Controlled Trial Multicenter StudyLong-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy.
Tafamidis, a transthyretin (TTR) kinetic stabilizer, delayed neuropathic progression in patients with Val30Met TTR familial amyloid polyneuropathy (TTR-FAP) in an 18-month randomized controlled trial (study Fx-005). This 12-month, open-label extension study evaluated the long-term safety, tolerability, and efficacy of tafamidis 20 mg once daily in 86 patients who earlier received blinded treatment with tafamidis or placebo. Efficacy measures included the Neuropathy Impairment Score in the Lower Limbs (NIS-LL), Norfolk Quality of Life-Diabetic Neuropathy total quality of life (TQOL) score, and changes in neurologic function and nutritional status. ⋯ AEs were similar between groups; no patients discontinued because of an AE. Long-term tafamidis was well tolerated, with the reduced rate of neurologic deterioration sustained over 30 months. Tafamidis also slowed neurologic impairment in patients previously given placebo, but treatment benefits were greater when tafamidis was begun earlier.
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Journal of neurology · Nov 2013
Cerebral FDG-PET and MRI findings in autoimmune limbic encephalitis: correlation with autoantibody types.
In parallel to the detection of new neuronal autoantibodies, the diagnosis of non-infectious limbic encephalitis has risen. Given that cerebral imaging studies show highly variable results, the present retrospective study investigates imaging findings in association with autoantibody type. An institutional database search identified 18 patients with non-infectious limbic encephalitis who had undergone [18F] fluorodeoxyglucose positron emission tomography (FDG-PET). ⋯ A similar association was found using MRI, although this did not reach statistical significance. Autoantibody type was found to be associated with FDG-PET and, to a lesser extent, with MRI imaging results. Our observations may explain the heterogeneity of imaging data in LE and based on in vivo findings support the assumption of different patho mechanisms underlying LE due to antibodies against surface and intracellular antigens, respectively.
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Journal of neurology · Nov 2013
Randomized Controlled TrialHigh-rate repetitive transcranial magnetic stimulation in migraine prophylaxis: a randomized, placebo-controlled study.
Repetitive transcranial magnetic stimulation (rTMS) is an emerging treatment for pain but there is no class 1 study on its role in migraine prophylaxis. In this study we report the efficacy and safety of high-rate rTMS in migraine prophylaxis. Adult migraine patients having >4 attacks/month were randomized to high-rate rTMS or sham stimulation. ⋯ Functional disability also improved significantly in rTMS group (P = 0.0001). Only one patient following rTMS developed transient drowsiness and was withdrawn from the study. This study provides evidence of the efficacy and safety of 10 Hz rTMS in migraine prophylaxis.
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Journal of neurology · Nov 2013
Effects of 4-aminopyridine on nystagmus and vestibulo-ocular reflex in ataxia-telangiectasia.
Ataxia-telangiectasia (A-T) is a progressive neurodegenerative disorder with prominent eye movement deficits localizing to the cerebellum. We sought to determine if 4-aminopyridine (4-AP), which putatively enhances the precision of Purkinje neurons, could improve the disorders of eye movements and vestibular function in A-T. The influence of 4-AP on disorders of eye movements and vestibular function was studied in four A-T patients. ⋯ Among two A-T subjects who manifested PAN, 4-AP reduced the peak slow phase velocity of the more severely affected individual and abrogated the PAN in the other. Two A-T subjects manifested horizontal and vertical spontaneous nystagmus (SN) in primary gaze, 4-AP reduced its slow phase velocity. We conclude that in subjects with A-T 4-AP has a prominent effect on the ocular motor and vestibular deficits that are ascribed to the loss of cerebellar Purkinje neurons.
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Journal of neurology · Nov 2013
Focal thinning of the motor cortex mirrors clinical features of amyotrophic lateral sclerosis and their phenotypes: a neuroimaging study.
Amyotrophic lateral sclerosis (ALS) is characterised by degeneration of upper (UMN) and lower motor neurons (LMN). We aimed to relate clinical variables to cortical thinning of the primary motor cortex (PMC). The PMC was defined as the region of interest in high-resolution structural MRI scans. ⋯ The bulbar subscore of the ALSFRS-R correlated with thinning of the left inferior PMC. Focal morphological changes within the PMC correspond to clinically measured impairments and depend on disease phenotype. Measuring cortical thickness may potentially offer an objective in vivo marker to quantify disease pathology.