J Eric Ahlskog

..Benign tremulous parkinsonism has never been precisely defined nor has the long-term course been studied...

..INTERPRETATION: POLG mutations can cause early-onset parkinsonism in the absence of progressive external ophthalmoplegia...

..A dozen tips for optimizing treatment of Parkinson disease are discussed herein...

..3) Levodopa and other forms of dopamine replenishment therapy should be utilized to achieve the maximum capability and motivation for patients to maintain fitness...

..Although the clinical and therapeutic importance of the nigrostriatal dopaminergic system is undeniable, PD neuropathology is much more widespread...

..Although sporadic PD is also associated with mitochondrial dysfunction, Lewy neurodegeneration represents a more pervasive disorder with perhaps a second, or different primary mechanism...

..g., fatigue, depression, insomnia, pain, stiffness). Many subtle clues provided by history and examination are crucial, with laboratory and imaging being primarily supportive...

..Carbidopa/levodopa, pramipexole, and ropinirole are all appropriate first choices in the treatment of PD...

..Exercise should not be overlooked as an important therapeutic strategy...

..These studies further illustrate the difficulty in documenting a disease-modifying effect when considering a PD drug with symptomatic benefit...

..To date, there is no compelling evidence favoring dopamine agonists over levodopa; either is an appropriate choice for initial treatment of PD...

..Finally, the benefits from transplantation surgeries aimed at restoring dopaminergic neurotransmission will be limited because later-stage PD disability comes from nondopaminergic substrates. Scale...

..This experience points to the dopamine D3 receptor as a potential therapeutic target for gambling, sex or other addictions occurring spontaneously in the general population...

..The evidence for increased risk of dementia in relatives of patients with Parkinson disease (PD) remains conflicting...

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..Among PD patients, there was no relation between the risk of cancer and the cumulative dose of levodopa received or the use of other PD medications...

..These findings suggest that PD and ET may share familial susceptibility factors...

..The best fitting models for older onset PD (age > 59 years) were a recessive or an additive model. INTERPRETATION: The familial aggregation of PD may be explained in part by a major gene with additive effect on the penetrance...

..To explore whether associations of potential risk factors for incidental Lewy body disease (iLBD) are similar to those for Parkinson disease (PD)...

..42, P < 0.05). This study demonstrates that cardiac sympathetic degeneration and alpha-synuclein pathology is present in presymptomatic phase of PD, and that both increase with disease duration and severity...

..This population-based study suggests a link between pesticides use and PD that is restricted to men. Pesticides may interact with other genetic or nongenetic factors that are different in men and women...

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..The significance of Lewy bodies detected at autopsy in the brains of clinically normal individuals is uncertain but may represent preclinical Parkinson disease (PD)...

..The independent replication in two distinct populations and using different epidemiologic study designs may suggest a link between the number of children and PD restricted to men...

..Finally, we studied a group of 625 spouses of either cases or controls. Relatives with PD or other neurodegenerative diseases were ascertained using the family study method...

..Acquired generalized repetitive myoclonus may be mistaken for tremor. Distinguishing myoclonus has etiologic and therapeutic implications...

..037). Physiologically-confirmed psychogenic tremor carries a poor prognosis, with unremitting or worse tremor persisting 3-years after diagnosis in most...

..The substrate for DHS is controversial, with some concluding that the cause is myopathic and others, exclusively dystonic. We report our clinical series of DHS arising in the setting of parkinsonism...

..This disorder has an uncertain pathophysiologic relationship to idiopathic Parkinson disease. Deep brain stimulation (DBS) should be efficacious for this condition, but there is no previously published experience...

..We encountered 15 patients with a newly recognized clinical phenomenon that we term orthostatic myoclonus. We conducted a retrospective chart review to better understand the clinical context and importance of this phenomenon...

..Our long-term historical cohort study suggests that an anxious personality trait may predict an increased risk of PD developing many years later...

..77; 95% CI, 0.37-1.57; P = .47). Our study, based on historical information from a records-linkage system, does not support an association between BMI, cholesterol level, hypertension, or diabetes mellitus with later development of PD...

..Neurodegenerative dementias are typically characterized by an insidious onset and a relatively slowly progressive course. Less common are patients with a rapidly progressive course to death...

..62; 95% confidence interval, 1.66-4.15), whereas relatives of probands with later onset had no increased risk. The relative risk decreased when the incidence of all types of parkinsonism was considered...

..This population-based study suggests dyskinesia risk may not be a major concern for most Parkinson disease patients...

..These findings are consistent with in vitro experiments that revealed tau-mediated fibrillization of alpha-synuclein protein at low concentrations (dose threshold effect)...

..Little information is available about the incidence of stiff-man syndrome (SMS) (the classic form or its variants) or about long-term treatment responses and outcomes...

..CONCLUSIONS: Patients with PD face a higher risk of death compared with subjects free of PD from the general population. Certain clinical characteristics and smoking modify survival...

..Acquired copper deficiency is not a well-recognized complication of gastric surgery. In Menke's disease a defect in enterocyte transport of absorbed copper results in increased copper content in the duodenal mucosa and hypocupremia...

..With onset from 40 to 59 years of age, the incidence was higher at 50%. These incidence data may overestimate the functional importance, because patients with minimal or reversible dyskinesias were counted...

..68, p < 0.0001). This newly established historical cohort study provides opportunities to test hypotheses regarding the link between personality and aging, aging-related diseases, and overall mortality...

..Analyses confirmed a significant inverse association of the UCHL1 S18Y polymorphism with PD overall (OR=0.18, 95% CI=0.05-0.64, p=0.002, recessive model) and in several strata...

..Recognition of a nonmotor preclinical phase spanning 20 or more years should guide the search for predictive biomarkers and the identification of risk or protective factors for Parkinson disease...

..We also demonstrated that several axon guidance pathway genes represented by SNPs within our final models were differentially expressed in PD...

..A systematic literature review of pathological hypersexuality in PD revealed similar medication histories; combining these cases with our series, 26 of 29 patients (90%) were on adjuvant dopamine agonists...

..Here we investigated the association of PD with interactions between variants of these genes...

..Published autopsy confirmed cases have provided reasonable neurological characterisation but have lacked adequate autonomic function testing...

..Relatives of patients with Parkinson disease (PD) have an increased risk of PD and other neurologic disorders; however, their risk of psychiatric disorders remains uncertain...

..To describe reversible extralimbic paraneoplastic encephalopathies with large, lobar lesions on magnetic resonance imaging (MRI)...

..Othello's syndrome (OS) is a delusion of infidelity. We describe seven cases of OS in Parkinson's disease (iPD) patients using dopamine agonists...

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..Uncommonly, adult-onset dystonia is confined to one lower extremity. We sought to characterize the clinical spectrum associated with the presenting phenotype of lower limb dystonia including foot torsion...

..Here we investigated the interactions between SNPs in those three susceptibility genes and environmental exposures (pesticides application, tobacco smoking, coffee drinking, and alcohol drinking) also associated with PD susceptibility...

..The findings suggest that iLBD is preclinical PD and that the lack of symptoms is due to subthreshold pathology...

..Copper deficiency in ruminants is known to cause an ataxic myelopathy. Copper deficiency as a cause of progressive myelopathy in adults is underrecognized...

..In summary, survival in 4R tauopathies seemed independent of the presenting clinical phenotype, and there may be subtle clinical differences between bv-FTD patients with 3R and 4R tauopathies...

..To determine the frequency of new-onset compulsive gambling or hypersexuality among regional patients with Parkinson disease (PD), ascertaining the relationship of these behaviors to PD drug use...

..This genomic pathway approach may also offer insights into other complex diseases such as Alzheimer disease, diabetes mellitus, nicotine and alcohol dependence, and several cancers...

..There were suggestive trends in analyses stratified by sex and age at onset of PD, and for specific cancers related to smoking or hormonal factors...

..Patients with cognitive complaints after gastric bypass surgery may have focal thalamic brain atrophy that could result in cognitive impairment...

..To assess whether high school football played between 1946 and 1956, when headgear was less protective than today, was associated with development of neurodegenerative diseases later in life...

..Pathological gambling is a rare potential complication related to treatment of Parkinson disease (PD). However, the etiology of this behavior is poorly understood...

..We selected cases on the basis of evidence of brain manganese accumulation, and this may be a crucial component of these syndromes. Further studies are necessary to explore this issue...

..Recently, we evaluated two patients with corticobasal syndrome (CBS) who reported symptom onset after limb immobilization. Our objective was to investigate the association between trauma, immobilization and CBS...

..Neuroradiologists should consider this possibility when a long segment of symmetric dorsal spinal cord T2-hyperintensity is identified...

..Lifetime risk estimates are useful in clinical practice, epidemiologic research, and public health...

..The hematologic picture can resemble sideroblastic anemia or myelodysplastic syndrome. Hyperzincemia can be an accompanying abnormality even without exogenous zinc ingestion. The reason for the copper deficiency may not be evident...

..The authors assessed preoperative factors to determine which, if any, correlated with outcomes in patients with torticollis who had undergone this procedure...

..The neurological consequences of acquired copper deficiency in humans are not well described...

..Myelopathy due to acquired copper deficiency is not a well-recognized entity in humans, although myelopathy due to copper deficiency is well documented in some animal species...

..The latent and progressive phase closely resembled a progressive supranuclear palsy phenotype. The disorder may prove to be self-limiting but leaves the patients with considerable neurologic deficits...

..To determine our community's incidence of clinically suspected normal pressure hydrocephalus (NPH), the rate of shunting for NPH, and short- and long-term outcomes of shunting...

..CSF pressure was low. CT myelography documented CSF leak at the cervicothoracic junction. Targeted epidural blood patch led to resolution of symptoms, including complete disappearance of choreiform movements...

..Otherwise unexplained central respiratory failure, bilateral vocal cord paralysis, stridor, or refractory central sleep apnea should prompt consideration of MSA...

..To describe novel neurological manifestations associated with glutamic acid decarboxylase (GAD65) autoimmunity...

..To describe the clinical features, treatment, and outcomes of patients with antiphospholipid antibody (aPL)-associated chorea...

..The absence of diagnostic microscopic brain or spinal cord pathology suggests that the pathologic substrate may be neurochemical or receptor based...

..The MRI brain scan in both had unique focal abnormalities in the corresponding leg area of the homunculus that may be the substrate for the alien limb features...

..The occurrence of Alzheimer pathology was modest, but was highly correlated with Lewy body pathology, suggesting common origins or one triggering the other...