Novel GNO1 mutation in monozygotic twins responsive to DBS
Objective: GNAO1 is located on chromosome 16q12.2 and encodes Gα0 subunit of the heterotrimeric guanine-binding protein necessary for neuronal signaling. It is thought that loss-of-function GNAO1…Endophenotyping adult-onset isolated cervical dystonia: Does period of onset of mood disorder matter?
Objective: We aim to characterize clinical and demographic features pertaining to the time of onset of mood disorder in CD patients. Background: Mood disorder frequently…Exploring the pathophysiology of acquired dystonia by the use of high frequency somatosensory stimulation
Objective: To explore the effect of high-frequency repetitive sensory stimulation (HF-RSS) on the excitability of the sensorimotor cortex in acquired dystonia Background: Dystonia is currently…Movement disorders and it association with immunological causes: the key is in the movement
Objective: Observe the clinical and biochemical characteristics and the result of the treatment instituted in movement immune-mediated etiology. Background: Paraneoplastic autoimmune movement disorders are a…Incidence and survival of psychosis in patients with Parkinson’s Disease (1991-2010)
Objective: To determine the incidence of psychosis in patients with Parkinson's disease (PD) and to investigate the survival after a psychosis diagnosis among an incident…Carers of People Living with Parkinson’s Disease, the 2019 European Realities
Objective: PD as a chronic disease interferes with the life of non professional relatives caring for the patient (carers). The aim of this survey is…Hereditary spastic paraparesis plus syndrome associated to a novel FARS2 gene mutation
Objective: To communicate a novel mutation in the phenylalanyl-tRNA synthetase 2 (FARS2) gene causing spastic paraparesis. Background: Hereditary spastic paraplegias (HSP) are a complex group…Can Handwriting Movement Abnormalities Serve as an Early Biomarker of Transition to Manifest Huntington’s disease?
Objective: The objective of this study was to examine whether handwriting abnormalities are present prior to clinically manifest chorea in Huntington's disease (HD) and can…TAU pathology contributes to specific patterns of structural brain damage and neuropsychological heterogeneity in Huntington’s disease
Objective: Explore the associations between CSF levels of neurofilament light chain (Nfl), total TAU (tTAU) and phosphorylated TAU (pTAU), structural brain damage and cognitive performance…Caspr2 antibody associated spinal myoclonus
Objective: We report two patients with spinal myoclonus and Contactin-associated protein-2 (Caspr-2)-antibodies, idiopathic in one and paraneoplastic in the other. Background: Caspr-2-antibodies have classically been…
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