Morbidities in rapid eye movement sleep behavior disorder

Idiopathic rapid eye movement (REM) sleep behavior disorder (iRBD, RBD without any obvious comorbid major neurological disease), is strongly associated with numerous comorbid conditions. The most prominent is that with neurodegenerative disorders, especially synuclein-mediated disorders, above all Parkinson disease (PD). Idiopathic RBD is an important risk factor for the development of synucleinopathies. Comorbidity studies suggest that iRBD is associated with a number of other potential pre-motor manifestations of synucleinopathies such as, cognitive and olfactory impairment, reduced autonomic function, neuropsychiatric manifestations and sleep complaints. Furthermore, patients with PD and RBD may have worse prognosis in terms of impaired cognitive function and overall morbidity/mortality; in dementia, the presence of RBD is strongly associated with clinical hallmarks and pathological findings of dementia with Lewy bodies. These findings underline the progressive disease process, suggesting involvement of more brain regions in patients with a more advanced disease stage. RBD is also associated with narcolepsy, and it is likely that RBD associated with narcolepsy is a distinct subtype associated with different comorbidities. RBD is also associated with antidepressant medications, autoimmune conditions, and, in rare cases, brainstem lesions.     

硬皮病合并癫痫发作(附2例临床报告)

目的 硬皮病合并癫痫是一种临床少见病例，其发病机制目前尚不明了。本文对此进行讨论。方法通过2例硬皮病合并癫痫的病例报告及相关文献中的临床及病理资料来进行总结和讨论。结果限局性硬皮病合并神经系统损害较系统性硬皮病更为少见，多表现为线状硬皮病伴有癫痫。且限局性硬皮病与系统性硬皮病导致神经系统损害的机制不同。结论系统性硬皮病的神经系统损害多是由于其伴发的系统性疾病继发所致。而限局性硬皮病合并癫痫可能是由于中枢神经系统的慢性炎性反应或血管发育不良所致。     

Enfermedad de Parkinson y enfermedad de Alzheimer: factores de riesgo ambientales

IntroductionThe purpose of this review is to update and summarise available evidence on environmental risk factors that have been associated with risk of Parkinson disease (PD) or Alzheimer disease (AD) and discuss their potential mechanisms.DevelopmentEvidence consistently suggests that a higher risk of PD is associated with pesticides and that a higher risk of AD is associated with pesticides, hypertension and high cholesterol levels in middle age, hyperhomocysteinaemia, smoking, traumatic brain injury and depression. There is weak evidence suggesting that higher risk of PD is associated with high milk consumption in men, high iron intake, chronic anaemia and traumatic brain injury. Weak evidence also suggests that a higher risk of AD is associated with high aluminium intake through drinking water, excessive exposure to electromagnetic fields from electrical grids, DM and hyperinsulinaemia, obesity in middle age, excessive alcohol consumption and chronic anaemia. Evidence consistently suggests that a lower risk of PD is associated with hyperuricaemia, tobacco and coffee use, while a lower risk of AD is associated with moderate alcohol consumption, physical exercise, perimenopausal hormone replacement therapy and good cognitive reserve. Weak evidence suggests that lower risk of PD is associated with increased vitamin E intake, alcohol, tea, NSAIDs, and vigorous physical exercise, and that lower risk of AD is associated with the Mediterranean diet, coffee and habitual NSAID consumption.ConclusionsSeveral environmental factors contribute significantly to risk of PD and AD. Some may already be active in the early stages of life, and some may interact with other genetic factors. Population-based strategies to modify such factors could potentially result in fewer cases of PD or AD.     

Anti-Hu paraneoplastic brainstem encephalitis caused by a pancreatic neuroendocrine tumor presenting with central hypoventilation

Paraneoplastic neurological syndromes are rare autoimmune manifestations of malignancies associated with specific antibodies. Anti-Hu associated brainstem encephalitis, a well-described syndrome, usually presents subacutely with preferential involvement of the medulla. Anti-Hu antibodies target intraneuronal antigens and are therefore highly correlated with neurological syndromes when present concomitantly with a neoplasm. Reported is a case of anti-Hu brainstem encephalitis associated with a pancreatic neuroendocrine tumor (PNET) presenting with central hypoventilation. This is the first described case of brainstem encephalitis associated with a well-differentiated PNET as well as the first case of Anti-Hu antibodies associated with a PNET. There are no standardized protocols for the treatment of paraneoplastic brainstem encephalitis however, as in the present case, surgical resection and oncological treatment of the tumor is the first line treatment.     

Cryptococcal meningitis. Cure despite cryptococcemia

Cure of cryptococcal meningitis accompanied by cryptococcemia was achieved with amphotericin B therapy. Cryptococcal meningitis is associated with substantial morbidity and mortality, especially when accompanied by evidence of extraneural infection. Experience with the patient reported suggests that associated cryptococcemia is not invariably associated with treatment failure.     

Autoimmune retinopathy associated with carcinoid tumour of the small bowel

Cancer associated retinopathy (CAR) is an immune mediated paraneoplastic condition associated with vision loss. It has been associated with a variety of systemic malignancies. The primary clinical presentation is rapid, progressive vision loss. Rod and cone dysfunction can cause other associated symptoms, such as nyctalopia. Electrophysiological testing and detection of anti-retinal antibodies are used to confirm the diagnosis. To our knowledge we describe the first patient with CAR associated with a carcinoid tumour of the gastrointestinal system. Auto-antibodies against alpha enolase and carbonic anhydrase II were detected with western blotting. Electroretinogram findings were consistent with rod and cone dysfunction.     

Myotonia associated with sarcoidosis: marked exacerbation with pravastatin.

A 37-year-old man with sarcoidosis developed severe electrical and clinical myotonia while taking pravastatin for hypercholesterolemia. Myotonia associated with sarcoidosis is rare. Pravastatin is associated with myotonia in animals. This case suggests that sarcoidosis and pravastatin, two entities not frequently associated with myotonia, may interact in a synergistic manner to produce severe clinical myotonia in humans.     

Movement disorders associated with neuronal antibodies

Movement disorders are one of the common clinical features of neurological disease associated with neuronal antibodies which is a group of potentially reversible disorder. They can present with hypokinetic or hyperkinetic types of involuntary movements and may have other associated neurological symptoms. The spectrum of abnormal movements associated with neuronal antibodies is widening. Some specific phenomenology of movement disorders are likely to give clue about the type of antibody, for instance, presence of paroxysmal dystonia (facio‐brachial dystonic seizures) are a pointer toward presence of LGI‐1 antibodies, and orofacial lingual dyskinesia is associated with NMDAR associated encephalitis. The presence of specific type of movement disorder allows high suspicion of testing of certain specific type of antibodies. In this review, we have discussed the various antibodies and the spectrum of movement disorder associated with them, highlighting if any distinct movement disorder allows the clinician to suspect type of antibody in a certain clinical context. We have also reviewed the treatment of the movement disorder associated with the neuronal antibodies. Physicians should have high index of suspicion of these disorders, as early institution of treatment options can lead to better outcome.     

Abnormalities in evoked potentials associated with abnormal glycemia and brain injury in neonatal hypoxic-ischemic encephalopathy

ObjectiveTo investigate how functional integrity of ascending sensory pathways measured by visual and somatosensory evoked potentials (VEP & SEP) is associated with abnormal glycemia and brain injury in newborns treated with hypothermia for hypoxic-ischemic encephalopathy (HIE).MethodsFifty-four neonates ≥ 36 weeks gestational age with HIE underwent glucose testing, VEPs, SEPs, and magnetic resonance imaging (MRI) the first week of life. Minimum and maximum glucose values recorded prior to evoked potential (EP) testing were compared with VEP and SEP measures using generalized estimating equations. Relationships between VEP and SEP measures and brain injury on MRI were assessed.ResultsMaximum glucose is associated with decreased P200 amplitude, and increased odds that N300 peak will be delayed/absent. Minimum glucose is associated with decreased P22 amplitude. Presence of P200 and N300 peaks is associated with decreased odds of brain injury in the visual processing pathway, with delayed/absent N300 peak associated with increased odds of brain injury in posterior white matter.ConclusionsDeviations from normoglycemia are associated with abnormal EPs, and abnormal VEPs are associated with brain injury on MRI in cooled neonates with HIE.SignificanceGlucose is a modifiable risk factor associated with atypical brain function in neonates with HIE despite hypothermia treatment.     

Dandy-walker malformation associated with neurocutaneous melanosis

Neurocutaneous melanosis associated with Dandy-Walker malformation is a rare dysmorphogenesis that is associated with single or multiple giant pigmented cutaneous nevi and diffuse involvement of the central nervous system. In this article, we present a 2-month-old patient with neurocutaneous melanosis associated with Dandy-Walker malformation. In addition, we reviewed the literature and discussed the pathogenesis based on the preferred hypotheses.     

Social power and approach-related neural activity

It has been argued that power activates a general tendency to approach whereas powerlessness activates a tendency to inhibit. The assumption is that elevated power involves reward-rich environments, freedom and, as a consequence, triggers an approach-related motivational orientation and attention to rewards. In contrast, reduced power is associated with increased threat, punishment and social constraint and thereby activates inhibition-related motivation. Moreover, approach motivation has been found to be associated with increased relative left-sided frontal brain activity, while withdrawal motivation has been associated with increased right sided activations. We measured EEG activity while subjects engaged in a task priming either high or low social power. Results show that high social power is indeed associated with greater left-frontal brain activity compared to low social power, providing the first neural evidence for the theory that high power is associated with approach-related motivation. We propose a framework accounting for differences in both approach motivation and goal-directed behaviour associated with different levels of power.     

The relationship of attachment insecurity to subjective stress and autonomic function during standardized acute stress in healthy adults

OBJECTIVE: The purpose of this study was to test predicted relationships between adult attachment and stress using subjective and physiological measures. METHODS: Sixty-seven healthy adults completed measures of adult attachment and perceived chronic stress. Subjective stress and the high-frequency (HF) and low-frequency (LF) spectral bandwidths of heart rate variability (HRV) were measured during a standardized stress protocol. RESULTS: Attachment anxiety is associated with between-subject differences in chronic perceived stress (P=.001) and subjective acute stress (P=.01). There is a main effect of attachment avoidance on between-subject differences in HF HRV (P=.004). Attachment avoidance is inversely associated with HF HRV, independent of age and variability in respiration. CONCLUSION: Attachment anxiety is associated with self-reported distress. Attachment avoidance is inversely associated with HF HRV, a marker of vagal influence on cardiac activity, but is not associated with subjective stress.     

The role of meta-cognition and parenting in adolescent worry

In the meta-cognitive model of worry, positive, and negative beliefs about worry interact to make worry problematic. These beliefs have been found to be associated with anxiety in adolescents, but it is unknown whether they are associated with worry. Furthermore, it may be via cognitive mechanisms such as these, or directly through behavior, that parents influence their child's worry. The current study aimed to explore whether adolescent meta-cognition and parenting behaviors and meta-cognitions were associated with adolescent worry. Results indicated that meta-cognitions were specifically associated with worry in adolescents, but there was little evidence that parenting was. Parental worry on the other hand was associated with both parent and child reported parenting. It is concluded that the meta-cognitive model of worry may be relevant in adolescents, but that further research is required to explore how parents influence adolescent worry.     

The production and detection of deception in an interactive game

This experiment tests how people produce and detect deception while playing a computerized version of the dice game, Meyer. Deception is an integral part of this game, and the participants played it as in real life, without constraints on whether or when to attempt to deceive their opponent, and whether or when to accuse them of deception. We stress that deception is a complex act that cannot be exclusively associated with telling a falsehood, and that it is facilitated by hierarchical decision-making and risk evaluation. In comparison with a non-competitive control condition, both claiming truthfully and claiming falsely were associated with activity in fronto-polar cortex (BA10). However, relative to true claims, false claims were associated with greater activity in the premotor and parietal cortices. We speculate that the activity in BA10 is associated with the development of high-level executive strategies involved in both types of claim, while the premotor and parietal activity is associated with the need to select which particular claim to make.     

Dandy Walker malformation and hypertrophic cardiomyopathy. Unusual fatal association

Dandy Walker malformation (DWM) is a rare congenital brain anomaly characterized by cystic dilation of the fourth ventricle and hypoplasia of the cerebellar vermis. Other extracranial anomalies can be associated, including cardiac defects. We report a rare patient with DWM associated with progressive heart failure secondary to hypertrophic cardiomyopathy. He was diagnosed at 2 months of age and died 5 months later. We conclude that hypertrophic cardiomyopathy can be associated with DWM with poor prognosis. A careful cardiac evaluation is needed in all infants with DWM for early recognition of such potentially serious associated cardiac malformations.     

Clinical Aspects of Familial Forms of Frontotemporal Dementia Associated with Parkinsonism

Frontotemporal dementia is the second most common dementia among people under the age of 65. Fifty percent of affected patients have an associated family history. Several pathogenic genes have been identified for frontotemporal dementia associated with parkinsonism, including microtubule-associated protein tau, progranulin, and chromatin modifying protein 2B, and fused in sarcoma. It has also been reported that frontotemporal dementia associated with parkinsonism can be linked to chromosome 9p. In addition, there are families with frontotemporal dementia associated with a parkinsonian phenotype but unknown genetic status. Some of these kindreds have been diagnosed clinically as familial progressive supranuclear palsy, hereditary diffuse leukoencephalopathy with axonal spheroids, “overlap” syndrome, and others. Clinical presentation of frontotemporal dementia associated with parkinsonism is variable at age of symptomatic disease onset, disease duration, symptoms, and their occurrence during the disease course. Clinically, it is often difficult to sort out the different genetic forms of frontotemporal dementia associated with parkinsonism. However, with available clinical genetic testing for known genes, the precise diagnosis can be accomplished in some cases.     

Migraine associated with head trauma

Migraine associated with head trauma i.e. onset of migraine in close temporal relation to a head trauma was analyzed in a large population based survey of 4000 forty-year-old males and females. Of the 29 people with migraine associated with head trauma, 20 had migraine without aura associated with head trauma, six had migrainous disorder without aura associated with head trauma and three had migraine with aura associated with head trauma. Eleven had a significant head trauma (loss of consciousness or posttraumatic amnesia lasting more than 10 minutes) and 18 had a minor head trauma. The overall lifetime prevalence of migraine associated with head trauma was 1.4% with a male-female ratio of 1:2.4. The symptomatology of migraine associated and unassociated with head trauma was not different. The first degree relatives of probands with migraine associated with head trauma were blindly interviewed by a physician. The first degree relatives of probands with migraine without aura associated with head trauma had a significantly lower risk of migraine without aura than first degree relatives of probands with migraine without aura unassociated with head trauma. We conclude that migraine without aura associated and unassociated with head trauma have a different aetiology. Thus, it is very likely that a head trauma may cause migraine without aura. The mechanisms involved in trauma induced migraine without aura are unknown.     

Acute subdural haematoma : a reappraisal

Acute subdural haematoma is a well-entrenched nosological entity implying subdural collection of blood following acute head injury. Pathologically, it is usually associated with or, for that matter, secondary to cerebral contusion and laceration. Based on cumulated experience, clinical and pathological studies it is proposed that, for too long the neurosurgeons have put emphasis on the clot rather than the totality of the pathological anatomy and that they have focused their therapeutic strategy on removal of the accumulated blood, unmindful of the associated parenchymatous lesion. Not surprisingly, such attempts have been associated with a very high mortality. On the basis of nearly four decades of personal experience and critical review of the literature, evidence has been provided that to reduce the mortality associated with this condition, it is necessary to evolve a strategy, not only to evacuate the blood but comprehensively deal with the associated parenchymatous lesions and the cascade of secondary insult to the underlying brain.     

Methylation defects

Conclusion In patients within born errors of methyl group metabolism, demyelination is associated with reduced S-adenosylmethionine in CSF. Restoration of S-adenosylmethionine after treatment is associated with remyelination.