Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Nov 2011
Sensorimotor skills and focal dystonia are linked to putaminal grey-matter volume in pianists.
Focal hand dystonia has been associated with morphometric changes and distorted somatotopic representations in the putamen. ⋯ In highly trained pianists with and without MD, the volume of the associative motor territory in the middle putamen reflects both the skill level of piano playing and the presence of dystonia. While a smaller volume is associated with better timing skills, a relative expansion is correlated with the presence of focal task-specific hand dystonia.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2011
Multicenter StudySafety of transcranial Doppler 'bubble study' for identification of right to left shunts: an international multicentre study.
A recent retrospective study using an online list service established by the American Academy of Neurology has suggested that ischaemic cerebrovascular events may occur in patients who undergo 'bubble studies' (BS) with either transcranial Doppler (TCD) or transoesophageal echocardiography (TOE). The safety of TCD-BS for right to left shunt (RLS) identification was evaluated prospectively in an international multicentre study. ⋯ TCD-BS is a safe screening test for identification of RLS, independent of the presence of cardiac structural abnormalities.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2011
Effects of deep brain stimulation of dorsal versus ventral subthalamic nucleus regions on gait and balance in Parkinson's disease.
Deep brain stimulation (DBS) of the subthalamic nucleus (STN) improves motor function, including gait and stability, in people with Parkinson's disease (PD) but differences in DBS contact locations within the STN may contribute to variability in the degree of improvement. Based on anatomical connectivity, dorsal STN may be preferentially involved in motor function and ventral STN in cognitive function. ⋯ Absence of differences in gait and balance between the dorsal and ventral conditions suggests motor connections involved in gait and balance may be more diffusely distributed in STN than previously thought, as opposed to neural connections involved in cognitive processes, such as response inhibition, which are more affected by ventral stimulation.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2011
Prognostic significance of third ventricle blood volume in intracerebral haemorrhage with severe ventricular involvement.
Intraventricular haemorrhage (IVH) is an independent predictor of poor outcome in spontaneous intracerebral haemorrhage (ICH). Larger IVH volume and increasing number of affected ventricles have been associated with worse prognosis, however, little is known about the prognostic value of blood volume in the different parts of the ventricular system. Therefore, the correlation of IVH volume in the third, fourth and lateral ventricles with outcome in patients with ICH and severe IVH, treated with intraventricular fibrinolysis (IVF), was investigated. ⋯ Despite rapid clot removal, initial IVH volume in the third ventricle was a strong and independent negative predictor. This is possibly explained by irreversible damage of brainstem structures by the initial mass effect of IVH.
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J. Neurol. Neurosurg. Psychiatr. · Nov 2011
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis.
Optineurin (OPTN), a causative gene of hereditary primary open-angle glaucoma, has been recently associated with amyotrophic lateral sclerosis (ALS) with mainly autosomal recessive, but also dominant, traits. To further define the contribution of OPTN gene in ALS, we performed a mutational screening in a large cohort of Italian patients. ⋯ In this cohort, OPTN mutations were present both in FALS (2/161), accounting for 1.2% cases, and in SALS patients (4/113), thereby extending the spectrum of OPTN mutations associated with ALS. The study further supports the possible pathological role of optineurin protein in motor neuron disease.