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Abstract: Orthostatic hypotension (OH) in Parkinson''s disease (PD) patients may be a significant source of morbidity and discomfort. Although peripheral ANS components have been associated with its development, central mechanisms are probably involved. The insular cortex is a central site of autonomic and limbic integration and neuropathologic studies have indicated its involvement in the neurodegenerative process of PD. To this end, we studied the neuropathology of the insular, temporal and parietal cortices in PD patients with and without OH. Our results suggest an association between the severity of PD-related neuropathology in the insular cortex and OH. Further research into the subject is warranted. [Copyright &y& Elsevier]

Abstract: Visual hallucinations (VH) are among the most common non-motor complications of Parkinson''s disease (PD). A few studies on their etiopathogenesis have suggested involvement of cortical and amygdalar areas. In order to investigate the possible association between extranigral Lewy Body (LB) distribution across cortical and amygdalar regions and the presence of VH in PD brain donors, we conducted a clinico-pathological comparison of 10 PD patients with VH vs 10 closely matched PD patients without VH. The LB burden was significantly higher across the amygdala and the frontal, temporal and parietal cortical areas in patients with VH. Although our results suggest significant extranigral involvement, the precise etiopathologic mechanisms responsible for the development of VH need further clarification. [Copyright &y& Elsevier]

Abstract: Oromandibular dystonia (OMD) is a form of focal dystonia that affects masticatory, lower facial, and lingual muscles. We compared the clinical variables and response to treatment between patients with idiopathic jaw-closure C-OMD (n=11) and jaw-opening dystonia O-OMD (n=12) seen in our Movement Disorders clinic over the last 10 years. The co-existence of dystonia in other regions and sensory tricks were significantly more prevalent in O-OMD (P=0.049 and 0.03, respectively). Male gender, orobuccolingual dyskinesias (facial grimacing, lip biting, tongue dyskinesias, platysma contractions and bruxism) and better response to botulinum toxin injections were more frequent in C-OMD but remained a trend. [Copyright &y& Elsevier]

Abstract: Although primary focal hand dystonia has been well characterized, primary focal foot dystonia in adults has rarely been reported. Our objective was to describe the clinical phenotype and treatment outcomes in patients with primary, adult-onset focal foot dystonia. To this end we conducted a retrospective study of four consecutive patients (59.5±13.5 years, range 44–67) diagnosed over a period of 6 years and followed-up for at least 5 years. Focal foot dystonia resulted in variable physical impairment. Anti-dystonic agents were mildly effective whereas botulinum toxin injections provided substantial benefit when used. Focal primary focal foot dystonia seems to be a rare form of focal dystonia with distinct clinical features that may benefit from treatment with botulinum toxin. [Copyright &y& Elsevier]

Abstract: The aim of this study was to investigate the causes and seasonality of death and co-morbid conditions among progressive supranuclear palsy (PSP) patients. 22 consecutive clinicopathologically confirmed PSP patients were compared with 22 gender and age-matched Parkinson''s disease (PD) patients and 26 non-neurological controls. All subjects consented during life to donate their brains to the University of Miami Brain Endowment Bank™. Respiratory-related deaths were significantly more frequent in PSP when compared to PD patients. Recurrent respiratory infections were also very frequent in PSP patients and were commonly associated with respiratory-related deaths. Deaths that occurred during winter and spring months accounted for about 70% of deaths among PSP patients. The most common co-morbid condition in PSP was hypertension, present in 50% of cases. [Copyright &y& Elsevier]

Abstract: Painless arms/moving fingers is a rare variant of the painful limbs/moving extremities syndrome (PLME) characterized by slow involuntary movements of the toes or fingers. Its typical form is associated with limb pain. We report the first case of painless arms/moving fingers and describe its favorable response to botulinum toxin A injections. The presence of dystonic symptoms in our case argues in favor of a possible implication of a dystonic mechanism in at least some cases of PLME. [Copyright &y& Elsevier]

Abstract: Parkinson''s disease (PD) has classically been characterized by features of motor dysfunction, but these may manifest only after the nigrostriatal system has incurred significant damage. However, recent evidence suggests that cardiac sympathetic denervation occurs early on in PD. This may trigger a shift in physicians'' attention to features of cardiovascular dysautonomia and allow for the evolution of earlier screening techniques. MIBG and PET (6F-DA) scans have demonstrated the functional loss of postganglionic sympathetic cardiac neurons, while immunohistochemical stains have revealed signs of morphological degeneration. Given this information, various screening techniques have been proposed, though most are particular to PD patients with orthostatic hypotension (OH). This is a considerable drawback given that the prevalence of OH in PD patients is estimated to be 41%. We present the argument that a shift in focus is needed; investigators should look for other manners by which to screen patients that are not reliant upon blood pressure. In our point of view, the problem with using blood pressure as a measurement is that it can be affected by many other factors unrelated to cardiac denervation. This may be why many patients with PD cannot be detected using these techniques. In order to make further progress on this front, we believe that investigators should start looking for variables that are more purely dependent upon cardiac denervation. We give one possible example of such a variable in this paper using heart transplant patients as a model. [Copyright &y& Elsevier]

Abstract: Clinicogenetic and pathological studies have shown that mutations of the glucocerebrosidase gene (GBA) are a risk factor for Parkinson’s disease and Lewy body disorders. In the present study, we have identified GBA mutations in 6.8% (4/59) of cases with a pathological diagnosis of diffuse Lewy body disease. Taken with previous studies, it appears that GBA mutations are associated with a more diffuse pattern of Lewy body distribution involving the cerebral cortex than the brainstem/limbic distribution observed in typical Parkinson’s disease. [ABSTRACT FROM AUTHOR]

Abstract: It has been proposed that there is an increased frequency of glucosidase-β mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of glucosidase-β mutations in 101 neuropathologically defined Lewy body disease cases (3%) compared to 99 healthy post-mortem controls (1%); odds ratio 3.0 (95% CI: 0.3–29, p =0.3). All three affected carriers were classified as diffuse Lewy body disease (n =3/50; 6%). Our study suggests glucosidase-β variants have a limited role in susceptibility to Lewy body disease in North America. [Copyright &y& Elsevier]

Multiple system atrophy (MSA) is by nature a 'sporadic' disease with no evidence of familial aggregation observed. However, the alpha-synuclein locus (SNCA) multiplication families have clinically displayed parkinsonism and autonomic dysfunction. The present study did not find any SNCA multiplications in a series of 58 pathologically confirmed MSA cases excluding this event as a common cause of MSA. The question of a genetic component in MSA remains to be answered. [ABSTRACT FROM AUTHOR]

Abstract: Multiple system atrophy (MSA) is by nature a ‘sporadic’ disease with no evidence of familial aggregation observed. However, the α-synuclein locus (SNCA) multiplication families have clinically displayed parkinsonism and autonomic dysfunction. The present study did not find any SNCA multiplications in a series of 58 pathologically confirmed MSA cases excluding this event as a common cause of MSA. The question of a genetic component in MSA remains to be answered. [Copyright &y& Elsevier]