Journal of the neurological sciences
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Review Case Reports
Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review.
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurodegenerative disorders. SPG4 is the most common autosomal dominant form of HSP subtypes and is caused by mutations of the SPAST gene. ⋯ The patients with deletions of exons in the SPAST gene showed pure HSP, and the age at onset showed interfamily and intrafamily variations. This study suggests that exon deletion should be examined routinely in patients who are clinically diagnosed with HSP.
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Comparative Study
Comparison of clinical, electrophysiological, sonographic and MRI features in CIDP.
We investigated the applicability of nerve ultrasound and magnetic resonance imaging (MRI) in chronic inflammatory demyelinating polyneuropathy (CIDP). ⋯ Nerve ultrasound and MRI findings show the same morphological fascicle alterations in peripheral nerves in correlation to ODSS. Nerve ultrasound as an affordable tool, easy and quick to perform, could replace MRI in daily routine for monitoring peripheral nerve morphology.
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Depression and pain may sometimes be related conditions. Occasionally, depression may be associated with physical symptoms, such as back pain and headache. Moreover, depression may impair the subjective response to pain and is likely to influence the pain feeling. Conversely, chronic pain may represent an emotional condition as well as physical sensation, and can influence both the mood and behaviour. ⋯ These results suggest the abnormal processing of pain stimuli in depressive disorders.
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Although adoption of new clinical criteria for dementia with Lewy bodies (DLB) leads to an increase in the proportion of patients diagnosed with probable DLB, the sensitivity of clinical diagnostic criteria of DLB is low, and there are no generally accepted clinical or imaging biomarkers to distinguish DLB from other types of dementia. In this study, we investigated whether neurocirculatory abnormalities and cardiac sympathetic denervation differed in controls and patients with subjective memory impairment (SMI), mild cognitive impairment (MCI), Alzheimer's disease (AD), and DLB. We also assessed whether spontaneous features of Parkinsonism might be related to the neurocirculatory abnormalities and cardiac sympathetic denervation found in DLB. ⋯ Our results suggest that MIBG scintigraphy and autonomic function tests may be useful for distinguishing between DLB and AD in clinical practice. Myocardial postganglionic sympathetic denervation and autonomic dysfunctions are present in patients with DLB regardless of spontaneous Parkinsonism.
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The neuroprotective effects of neuregulin-1 (NRG-1) on stroke lesions were assessed longitudinally in rats with middle cerebral artery occlusion (MCAo) using MRI. Sprague-Dawley rats (n=16, 250±20g) underwent permanent MCAo surgery with cerebral blood flow (CBF) monitored by laser doppler flowmetry at ipsilateral side of bregma for 20min post-occlusion. A single 50μl bolus dose of NRG-1 or vehicle was administered into the left internal carotid artery immediately prior to MCAo. ⋯ In particular, ischemic infarction was not usually observed in the cortex of NRG-1 treated rats with mild ischemia at 3 and 48h post-occlusion. Histological results validated the imaging findings and demonstrated that NRG-1 treated rats had fewer injured neurons in peri-infarct areas 48h post-ischemia. In summary, the neuroprotective effect of NRG-1 in the pMCAo stroke model was demonstrated by prevention of ischemic lesion expansion, reduced infarct volume and protection of neurons from ischemic damage.