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Anti-IgLON5 disease is a neurological disorder that associates with antibodies against IgLON5, a neuronal cell-adhesion protein of unknown function. Most patients develop a combination of prominent sleep alterations (non-rapid eye movement (NREM) and REM parasomnias with obstructive sleep apnoeas), bulbar dysfunction (dysarthria, dysphagia, vocal cord palsy, or episodes of respiratory failure), and gait instability. Initial autopsy studies showed deposits of phosphorylated tau protein predominantly in neurons of the tegmentum of the brainstem, suggesting a primary neurodegenerative disease. However, findings in subsequent studies have provided increasing support to an immune-mediated pathogenesis. First, there is a strong association with the human leukocyte antigen (HLA) haplotype DRB1*10:01–DQB1*05:01 which is present in ~60% of patients (compared to 2% in the normal population); second, recent autopsy studies showed absence of abnormal deposits of tau; and third, in live neurons in culture, IgLON5 antibodies cause an irreversible loss of surface IgLON5 clusters and changes in the cytoskeleton such as dystrophic neurites and axonal swellings. Taken together, these studies suggest that an antibody-mediated disruption of IgLON5 function leads to neurofilament and cytoskeletal alterations that can potentially result in tau accumulation.
Motor abnormalities (MAs) are the primary manifestations of schizophrenia. However, the extent to which MAs are related to alterations of subcortical structures remains understudied.
Methods
We aimed to investigate the associations of MAs and basal ganglia abnormalities in first-episode psychosis (FEP) and healthy controls. Magnetic resonance imaging was performed on 48 right-handed FEP and 23 age-, gender-, handedness-, and educational attainment-matched controls, to obtain basal ganglia shape analysis, diffusion tensor imaging techniques (fractional anisotropy and mean diffusivity), and relaxometry (R2*) to estimate iron load. A comprehensive motor battery was applied including the assessment of parkinsonism, catatonic signs, and neurological soft signs (NSS). A fully automated model-based segmentation algorithm on 1.5T MRI anatomical images and accurate corregistration of diffusion and T2* volumes and R2* was used.
Results
FEP patients showed significant local atrophic changes in left globus pallidus nucleus regarding controls. Hypertrophic changes in left-side caudate were associated with higher scores in sensory integration, and in right accumbens with tremor subscale. FEP patients showed lower fractional anisotropy measures than controls but no significant differences regarding mean diffusivity and iron load of basal ganglia. However, iron load in left basal ganglia and right accumbens correlated significantly with higher extrapyramidal and motor coordination signs in FEP patients.
Conclusions
Taken together, iron load in left basal ganglia may have a role in the emergence of extrapyramidal signs and NSS of FEP patients and in consequence in the pathophysiology of psychosis.
Acute, paroxysmal, recurrent, transient, permanent, and delayed movement disorders are occasionally reported in patients during the acute phase of stroke, or as delayed syndromes months or years after an acute vascular lesion. This chapter provides an overview on hyperkinetic manifestations of stroke. Transient or paroxysmal hemichorea-hemiballism can be difficult to distinguish from limb shaking, and has occasionally been considered as a vertebrobasilar transient ischemic attack (TIA). Orofacial dyskinesias have been found in a few patients with brainstem infarcts, associated with palatal myoclonus in one patient, and after thalamic infarcts. Mental dystonia has been reported in association with a posteroventrolateral thalamic infarct. Head or cervical tremor can develop in bilateral thalamic and midbrain infarcts and in bilateral cerebellar infarcts. Unilateral asterixis has been reported with contralateral lesions involving any structure involved with motion, and also with lesions in the territory of the PCA and particularly in patients with ipsilateral brainstem stroke.
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