Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Feb 2012
Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystonia.
Cervical myelopathy (CM) in patients with cerebral palsy (CP) is underdiagnosed as symptoms of spinal cord lesions, being similar to those due to dystonia, may be overlooked or identified late. The aim of this study is to identify the risk factors and clinical characteristics of CM in patients with generalised dystonia, including dystonic CP. ⋯ As severity of cervical dystonia and age are the major risk factors for spinal cord lesions, dystonic patients, including patients with dystonic CP, should be screened for CM from the third decade of life onwards. Early recognition of CM is crucial for functional prognosis and impact on autonomy.
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The distal hereditary motor neuropathies (dHMN) comprise a heterogeneous group of diseases that share the common feature of a length-dependent predominantly motor neuropathy. Many forms of dHMN have minor sensory abnormalities and/or a significant upper-motor-neuron component, and there is often an overlap with the axonal forms of Charcot-Marie-Tooth disease (CMT2) and with juvenile forms of amyotrophic lateral sclerosis and hereditary spastic paraplegia. Eleven causative genes and four loci have been identified with autosomal dominant, recessive and X-linked patterns of inheritance. ⋯ This review will summarise the clinical features of the different subtypes of dHMN to help focus genetic testing for the practising clinician. It will also review the neuroscience that underpins our current understanding of how these mutations lead to a motor-specific neuropathy and highlight potential therapeutic strategies. An understanding of the functional consequences of gene mutations will become increasingly important with the advent of next-generation sequencing and the need to determine the pathogenicity of large amounts of individual genetic data.
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J. Neurol. Neurosurg. Psychiatr. · Jan 2012
Lupus anticoagulant in patients with subarachnoid haemorrhage.
In aneurysmal subarachnoid haemorrhage (SAH), delayed cerebral ischaemia (DCI) is a serious complication that occurs in approximately 30% of patients. Lupus anticoagulant (LAC) is a risk factor for thrombotic events and has been associated with cerebral infarction after SAH. ⋯ No evidence was found that LAC contributes to the development of DCI in patients with aneurysmal SAH.