Internuclear ophthalmoplegia (INO) is a disorder of eye movements caused by a lesion involving the medial longitudinal fasciculus (MLF) within the brainstem, and it is characterized by adduction ...impairment combined with contralateral dissociated abduction nystagmus. The frequency of acute ischemic stroke (AIS) presenting with INO as a predominant symptom is very low, and many patients suffering from this brainstem AIS are precluded from intravenous thrombolysis (IVT).
To provide for the first time a magnetic resonance imaging (MRI) evidence of response to the IVT in brainstem wake-up stroke presenting with INO as an isolated symptom.
Here, we described a rare case of pons AIS presenting with INO as a unique symptom of awakening. In order to differentiate an ischemic stroke from other stroke mimics, and to determine whether the patient was within the therapeutic window for IVT (wake-up stroke), brain MRI including DWI and FLAIR sequences was acquired.
A left paramedian pontine DWI/FLAIR mismatch was detected and the patient was considered eligible for IVT. After IVT, the patient made a full recovery with complete resolution of INO. Follow-up MRI at 1 month demonstrates the absence of ischemic lesions.
Our case provides neuroradiological evidence of IVT efficacy in brainstem stroke, and it should prompt clinicians to rapidly perform MRI in wake-up onset INO and to just as quickly administer IVT, since INO is a functionally disabling deficit. Finally, this case demonstrates the value of MRI in diagnostic, prognostic, and therapeutic workup of posterior circulation wake-up stroke.
Fragile X-associated tremor/ataxia syndrome is a late-onset neurodegenerative disorder that affects about 40% of carriers of CGG-repeat expansions in the premutation range within the fragile X gene ...(FMR1). Main clinical features include intention tremor, cerebellar ataxia, and parkinsonism. Recently, great emphasis on the deposition of soluble aggregates produced by a RAN translation process, as main pathogenic mechanism, has been given. These aggregates contain a small protein with a polyglycine stretch on the aminoterminal end named FMRpolyG and, so far, have been isolated and characterized in drosophila and mouse models, in post mortem brain of fragile X-associated tremor/ataxia syndrome patients, in fibroblasts of fragile primary ovarian insufficiency patients, but never in fibroblasts from a fragile X-associated tremor/ataxia living patients. In adult carriers the syndrome is frequently misdiagnosed due to the lack of specific markers.
We standardized immunocytochemistry, immunoprecipitation and western blot procedures to study and biochemically characterize the FMRpolyG protein in fibroblasts from human skin biopsy.
We demonstrate for the first time, in fibroblasts from a patient affected by Fragile X-associated tremor/ataxia syndrome, the presence ex vivo of inclusions consisting of FMRpolyG- Hsp70 soluble aggregates.
These observations can pave the way to develop a cellular model for studying ex vivo and in vitro the mechanisms involved in the production of FMRpolyG aggregates, their toxicity, and the role of the FMRpolyG-Hsp70 interaction in the pathogenesis of fragile X-associated tremor/ataxia syndrome.
Miller-Fisher syndrome (MFS) together with Guillan-Barré syndrome (GBS) and Bickerstaff brainstem encephalitis (BBE) are considered to form a continuous clinical spectrum of the same disease, ...possibly affecting the peripheral and/or central nervous systems, with monophasic symptoms. The frequency of overlapping clinical signs and the risk of recurrence are independent and very low, but no cases of GQ1b-seropositive recurrent MFS overlapping with GBS and BBE have been described so far. Here, we describe for the first time an atypical case of recurrent GQ1b-seropositive MFS overlapping GBS and BBE, 12 years after a previous GQ1b-seronegative typical MFS episode. Our case expands the clinical spectrum of recurrent MFS, and it should prompt clinicians to investigate the presence of anti-ganglioside antibodies in recurrent MFS even when these were negative in the previous episode, especially in those presenting with overlapping spectrum symptoms and a critically ill picture during the second episode.
•Recurrent MFS and overlapping MFS/GBS/BBE are independent very rare conditions.•To date, no GQ1b+ recurrent MFS overlapping GBS and BBE have been described.•Anti-ganglioside antibodies should always be explored in recurrent MFS.•Recurrence MFS tends to take more severe clinical form than the initial episode.•Our case expands the clinical spectrum of recurrent MFS.
According to embodiment, the recruitment of the motor system is necessary to process language material expressing a motor content. Coherently, an impairment of the motor system should affect the ...capacity to process language items with a motor content. The aim of the present study was to assess the capacity to process graspable objects and their nouns in Parkinson's disease (PD) patients and healthy controls. Participants saw photos and nouns depicting graspable and non-graspable objects. Scrambled images and pseudo-words served as control stimuli. At 150 msec after stimulus presentation, they had to respond when the stimulus referred to a real object, and refrain from responding when it was meaningless (go-no go paradigm). In the control group, participants gave slower motor responses for stimuli (both photos and nouns) related to graspable objects as compared to non-graspable ones. This in keeping with data obtained in a previous study with young healthy participants. In the PD group, motor responses were similar for both graspable and non-graspable items. Moreover, error number was significantly greater than in controls. These findings support the notion that when the motor circuits are lesioned, like in PD, patients do not show the typical modulation of motor responses and have troubles in processing graspable objects and their nouns.
In this work, we investigated motor network structure in patients affected by essential tremor (ET) with or without resting tremor, using probabilistic tractography of the cerebello–thalamo–basal ...ganglia–cortical loop. Twenty-five patients with ET, twenty-two patients with ET associated with resting tremor (rET), and twenty-five age- and sex-matched healthy controls were included in the study. All participants underwent whole-brain 3D T1-weighted and diffusion-weighted MRI, and DAT–SPECT. Probabilistic tractography was performed on diffusion data in network mode, reconstructing connections between the different structures of the cerebello–thalamo–basal ganglia–cortical loop. All patients with ET, regardless of the presence of resting tremor, had normal DAT–SPECT, but showed significantly decreased connectivity in the cerebello–thalamo–precentral cortex network bilaterally, compared to healthy controls. In addition, patients with rET showed reduced connectivity in a pathway connecting globus pallidus, caudate, and supplementary motor area, compared to ET and controls. This latter circuit was significantly damaged in the hemisphere contralateral to the side clinically most affected by resting tremor. These findings provide insights upon structural changes underlying the different clinical presentations of ET. Our study demonstrates that ET and rET share common alterations in the cerebello–thalamo–precentral cortex circuit, while rET patients are characterized by specific damage to additional structures of motor network, such as globus pallidus, caudate nucleus, and supplementary motor area. Our findings suggest that ET and rET are different subtypes of the same neurodegenerative disorder.
Essential tremor-Parkinson's disease (ET-PD) syndrome is a clinical condition in which individuals with a long-lasting history of Essential tremor (ET) eventually develop Parkinson's disease (PD). ...The aim of the study was to investigate the accuracy performances of clinical, neurophysiological, and imaging biomarkers in differentiating patients affected by ET-PD syndrome from patients with ET or PD.
Nineteen patients affected by ET-PD syndrome, 48 ET patients, and 37 tremor-dominant PD (t-PD) patients were included. Electrophysiological studies, including blink-reflex recovery cycle and tremor parameters analyses, were performed in all groups. Nigro-striatal and cardiac sympathetic denervation were also investigated. Sensitivity, specificity and accuracy of clinical, electrophysiological, and radiological features in differentiating ET-PD syndrome from ET and PD were calculated.
ET-PD patients had significantly lower rigidity (p = 0.007) and higher postural/kinetic tremor (p = 0.007) scores, in comparison to t-PD patients. ET-PD patients, differently from PD patients, had a synchronous pattern of resting tremor and, differently from ET patients, had abnormal blink-reflex recovery cycle. ET-PD patients also showed reduced nigro-striatal and cardiac sympathetic uptakes, albeit to a lesser extent than in PD patients. The highest accuracy values were found for the synchronous pattern of resting tremor (97.1%) in distinguishing ET-PD from PD, and for presence of abnormal blink-recovery cycle (100%) in distinguishing ET-PD syndrome from ET.
Our study demonstrates that some electrophysiological parameters, such as a synchronous resting tremor pattern and the abnormal blink-recovery cycle were the most accurate biomarkers in distinguishing patient with ET-PD syndrome from those with ET or those with PD.
•ET-PD is a syndrome in which individuals with a long history of ET eventually develop PD.•Clinical and instrumental data were compared among ET-PD, ET, and t-PD patients.•ET-PD had lower rigidity and higher tremor scores than t-PD with similar disease duration.•Tremor pattern and BRrc accurately distinguished ET-PD from PD and ET, respectively.
Abstract Objective To investigate heart rate variability (HRV) in patients with Essential Tremor (ET) in comparison with patients with Parkinson's Disease (PD). Methods This is a cross sectional ...control study including 10 patients with ET, 10 patients with PD and 10 age-sex-matched controls. In patients and controls, we measured the components of HRV analysis in the frequency domain during a daytime period of 12-h. Selected HRV variables were low-frequency (LF) and high-frequency (HF), conventionally considered to be influenced by the sympathetic system and the parasympathetic system respectively. Results HRV variables, in patients with ET, were significantly different from those detected in PD patients and similar to those of controls while in PD patients, they were significantly different from those of controls. At cut off level of 654 ms2 , LF component correctly distinguished ET patients versus PD with sensitivity, specificity, PPV and accuracy of 100%. By contrast, at cut off level of 737 ms2 , HF component showed sensitivity, specificity, PPV and accuracy of 80%, 100%, 100%, and 86.67% respectively. DAT-SPECT and cardiac MIBG uptake were both normal in ET patients whereas they were markedly decreased in those with PD. Conclusions In our study, the LF component of HRV analysis distinguishes ET patients from those with PD on an individual basis, thus representing a valid help in everyday clinical practice for differentiation between these patients in absence of scintigraphic investigations.
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