Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Observational StudyA study of the neuropathy associated with transthyretin amyloidosis (ATTR) in the UK.
Hereditary transthyretin amyloidosis (ATTR) is usually characterised by a progressive peripheral and autonomic neuropathy often with associated cardiac failure and is due to dominantly inherited transthyretin mutations causing accelerated amyloid deposition. The UK population is unique in that the majority of patients have the T60A missense mutation in ATTR where tyrosine is replaced by adenine at position 60. This has been traced to a single founder mutation from north-west Ireland. The neuropathy phenotype is less well described than the cardiac manifestations in this group. ⋯ The description of the ATTR neuropathy phenotype, especially in the T60A patients, should aid early diagnosis as well as contribute to the understanding of its natural history.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Measuring arm function early after stroke: is the DASH good enough?
Despite a growing call to use patient-reported outcomes in clinical research, few are available for measuring upper limb function post-stroke. We examined the Disabilities of the Arm, Shoulder and Hand (DASH) to evaluate its measurement performance in acute stroke. In doing so, we compared results from traditional and modern psychometric methods. ⋯ RMT methods identified limitations missed by CTT and indicate areas for improvement of the DASH as an upper limb measure for acute stroke. Findings, similar to those identified in multiple sclerosis, highlight the need for scales to have strong conceptual underpinnings, with their development and modification guided by sophisticated psychometric methods.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Increased functional connectivity common to symptomatic amyotrophic lateral sclerosis and those at genetic risk.
To discern presymptomatic changes in brain structure or function using advanced MRI in carriers of mutations predisposing to amyotrophic lateral sclerosis (ALS). ⋯ Rather than structural brain changes, increased FC may be among the earliest detectable brain abnormalities in asymptomatic carriers of ALS-causing gene mutations. With replication and significant refinement, this technique has potential in the future assessment of neuroprotective strategies.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Observational StudyPredictive value of transcranial evoked potentials during mechanical endovascular therapy for acute ischaemic stroke: a feasibility study.
Mechanical endovascular therapy (MET) is a promising adjuvant or stand-alone therapy for acute ischaemic stroke caused by occlusion of a large vessel. Real-time monitoring of recanalisation success with regard to functional outcome is usually not possible because these procedures are mainly performed under general anaesthesia. We present a novel application for evoked potential monitoring for real-time evaluation of reperfusion success with respect to functional outcome during MET for acute ischaemic stroke. ⋯ MEPs and SSEPs are safe and feasible methods of real-time monitoring of reperfusion success with respect to functional outcome during MET for acute ischaemic stroke.
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J. Neurol. Neurosurg. Psychiatr. · Jun 2016
Parkinson's disease without nigral degeneration: a pathological correlate of scans without evidence of dopaminergic deficit (SWEDD)?
To describe 5 cases of Parkinson's disease lacking any detectable histopathology. ⋯ Striatal dopamine deficiency without nigral cell loss is the most likely explanation for the clinical findings; other possible explanations include slowness due to comorbidities misinterpreted as bradykinesia, a tardive syndrome related to undisclosed previous neuroleptic exposure, or 'soft age-related' parkinsonian signs. These cases emphasise the need to regularly review the diagnosis in cases of suspected Parkinson's disease and highlight the need for precision in the neurological examination particularly of elderly patients. These cases may represent a distinct entity of diagnostic exclusion and may be considered one explanation for the radiological phenomenon of SWEDD (scans without evidence of dopaminergic deficit).