Journal of neurology, neurosurgery, and psychiatry
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J. Neurol. Neurosurg. Psychiatr. · Feb 2015
CNS involvement in V30M transthyretin amyloidosis: clinical, neuropathological and biochemical findings.
Since liver transplant (LT) was introduced to treat patients with familial amyloid polyneuropathy carrying the V30M mutation (ATTR-V30M), ocular and cardiac complications have developed. Long-term central nervous system (CNS) involvement was not investigated. Our goals were to: (1) identify and characterise focal neurological episodes (FNEs) due to CNS dysfunction in ATTR-V30M patients; (2) characterise neuropathological features and temporal profile of CNS transthyretin amyloidosis. ⋯ Our findings indicate that CNS clinical involvement occurs in ATTR-V30M patients regardless of LT. Longer disease duration after LT can provide the necessary time for transthyretin amyloidosis to progress until it becomes clinically relevant. Highly sensitive imaging methods are needed to identify and monitor brain ATTR. Disease modifying therapies should consider brain TTR as a target.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2015
ReviewClinical neurology: why this still matters in the 21st century.
This review argues that even with the tremendous advances in diagnostic neuroimaging that the clinical skills involved in clinical neurology (ie, history, examination, localisation and differential diagnosis) remain key. Yet a number of recent audits suggest that large numbers of patients are failing to be assessed properly with a risk of patient harm, costly, unnecessary or inappropriate investigations, or delayed diagnosis. We review some of the reasons why patients are not being assessed properly neurologically, in part as many doctors have limited neurological exposure and are hence neurophobic. We propose that a solution to these issues centres around ensuring that a core set of basic neurological skills is taught at an undergraduate level, whereas higher level skills, such as the use of heuristics, are taught at postgraduate level.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2015
Increased risk of impulse control symptoms in Parkinson's disease with REM sleep behaviour disorder.
To assess the frequency of symptoms of impulse control disorders (ICD, namely pathological gambling, compulsive sexual behaviour, compulsive eating and compulsive shopping) and related behaviours (hobbyism, punding, walkabout and dopamine dysregulation syndrome) in patients with Parkinson's disease (PD) with and without probable rapid eye movement, sleep behaviour disorder (pRBD). ⋯ The present study indicates that RBD is associated with an increased risk of developing symptoms of ICDs in PD. Identifying RBD in PD may help clinicians to choose the best therapeutic strategy.
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J. Neurol. Neurosurg. Psychiatr. · Feb 2015
Observational StudyIowa gambling task impairment in Parkinson's disease can be normalised by reduction of dopaminergic medication after subthalamic stimulation.
Impulse control disorders (ICD), including pathological gambling, are common in Parkinson's disease (PD) and tend to improve after subthalamic (STN) stimulation after a marked reduction of dopaminergic medication. In order to investigate the effect of STN stimulation on impulsive decision making, we used the Iowa Gambling task (IGT). ⋯ Dopaminergic medication likely contributes to the impairment in decision making underlying ICDs. Deep brain stimulation allows drastic reduction of dopaminergic medication and, thus, concomitant remediation of medication-induced impairment in decision making.