hyperekplexia/drhtavica

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Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy.

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Prijava / prijava

SCN8A encephalopathy is a newly defined epileptic encephalopathy caused by de novo mutations of the SCN8A gene. We report herein a four-year-old boy presenting with severe non-epileptic abnormal movements, of possibly antenatal onset, progressively associated with pharmacoresistant epilepsy and

Hyperekplexia exacerbated by occlusion of posterior thalamic arteries.

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Prijava / prijava

A 65-year-old man with the onset of hyperekplexia at 37 years of age experienced resolution of the illness at the age of 45 years. Twenty years later after a posterior thalamoperforate artery occlusion that produced a "rubral tremor," severe hyperekplexia redeveloped. The patient's symptoms were

Glycine receptor mouse mutants: model systems for human hyperekplexia.

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Prijava / prijava

Human hyperekplexia is a neuromotor disorder caused by disturbances in inhibitory glycine-mediated neurotransmission. Mutations in genes encoding for glycine receptor subunits or associated proteins, such as GLRA1, GLRB, GPHN and ARHGEF9, have been detected in patients suffering from hyperekplexia.

[Non-epileptic paroxysmal disorder in neonates].

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Prijava / prijava

Non-epileptic paroxysmal disorders are frequent events in the neonate, generally transient. However, due to their intensity they can be confused as true epileptic seizures. The objective of this review is to update the concepts in relation to tremors, neonatal benign sleep myoclonus (MNBS) and

Differential diagnosis of epileptic seizures in infancy including the neonatal period.

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Prijava / prijava

It is important to accurately diagnose epileptic seizures in early life to optimise management and prognosis. Conversely, however, many different movements and behaviours may manifest in the neonatal period and infancy that may not have at their root cause a change in electrical activity of the

Genetic mapping and evaluation of candidate genes for spasmodic, a neurological mouse mutation with abnormal startle response.

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Prijava / prijava

Spasmodic (spd) is a recessive mouse mutation characterized by a prolonged righting reflex, fine motor tremor, leg clasping, and stiffness. Using an intersubspecific backcross that segregates spd, we placed spd on Chr 11 with the following gene order: Adra-1-3.8 +/- 2.1 cM-Pad-1-6.3 +/- 2.7-(spd,

Posttraumatic movement disorders after moderate or mild head injury.

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Prijava / prijava

We examined the occurrence of posttraumatic movement disorders after moderate or mild head injury with a three-level follow-up study including questionnaires, telephone interviews, and personal examinations 4-6 years after the trauma (mean 5.2 years). Sixteen of 158 patients (10.1%) for whom a

[Contributions of Charcot and Marsden to the development of movement disorders in the 19th and 20th centuries].

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Prijava / prijava

Charcot described many neurological diseases in the 19th century, particularly in movement disorders. Charcot contributed in the clinical description of Parkinson's disease, and introduced its first pharmacological treatment. He also studied the hyperkinesias, e.g. of Tourette syndrome, differential

Propofol restores the function of "hyperekplexic" mutant glycine receptors in Xenopus oocytes and mice.

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Prijava / prijava

Human hereditary hyperekplexia ("startle disease") is a neurological disorder characterized by exaggerated, convulsive movements in response to unexpected stimuli. Molecular genetic studies have shown that this disease is often caused by amino acid substitutions at arginine 271 to glutamine or

Murine startle mutant Nmf11 affects the structural stability of the glycine receptor and increases deactivation.

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Prijava / prijava

Hyperekplexia or startle disease is a serious neurological condition affecting newborn children and usually involves dysfunctional glycinergic neurotransmission. Glycine receptors (GlyRs) are major mediators of inhibition in the spinal cord and brainstem. A missense mutation, replacing asparagine

A frameshift mutation in the mouse alpha 1 glycine receptor gene (Glra1) results in progressive neurological symptoms and juvenile death.

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Prijava / prijava

The neurologic mutant mouse, oscillator, is characterized by a fine motor tremor and muscle spasms that begin at 2 weeks of age and progressively worsen, resulting in death by 3 weeks of age. We report the localization of the oscillator mutation to the central region of mouse Chr 11, and demonstrate

Myoclonus.

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Prijava / prijava

OBJECTIVE Myoclonus remains a challenging movement phenotype to characterize, evaluate, and treat. A systematic assessment of the temporal sequence, phenomenology, and distribution of movements can assist in the rational approach to diagnosis and management. RESULTS Cortical forms of myoclonus are

Experimental transmission of bovine spongiform encephalopathy (BSE) to cynomolgus macaques, a non-human primate.

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Prijava / prijava

Bovine spongiform encephalopathy (BSE) was transmitted to three macaques by intracerebral inoculation of a brain homogenate from affected cattle detected in Japan. All monkeys developed abnormal behavioral signs, such as intermittent anorexia and hyperekplexia, around 24 months after inoculation.

Clinical spectrum and diagnostic pitfalls of neurologic syndromes with Ri antibodies.

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Prijava / prijava

To describe the main syndrome and clinical course in a large cohort of patients with anti-Ri-associated paraneoplastic neurologic syndrome (Ri-PNS).Twenty-year retrospective nationwide study and systematic review of the

Chapter 33: the history of movement disorders.

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Prijava / prijava

Role of basal ganglia: Vesalius and Piccolomini distinguished subcortical nuclei from cortex and white matter in the 16th century. Willis' mistaken concept in the late 17th century that the corpus striatum was the seat of motor power persisted for 200 years and formed the basis of mid-19th-century

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