hyperkinesis/atrofia

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Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.

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BACKGROUND ATP8A2 mutations have recently been described in several patients with severe, early-onset hypotonia and cognitive impairment. The aim of our study was to characterize the clinical phenotype of patients with ATP8A2 mutations. METHODS An observational study was conducted at multiple

[Retinal degeneration associated with incompletely diminant hereditary hyperkinetic syndrome].

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[Experience in the surgical treatment of the hyperkinetic form of hepatolenticular degeneration (Wilson-Konovalov's disease)].

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[Hyperkinetic dystonic syndrome due to manganese poisoning with mental degeneration; clinical observation].

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Acute hemodynamic deterioration during rapid atrial pacing in patients with hypertrophic cardiomyopathy.

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OBJECTIVE Supraventricular tachycardia and ventricular tachycardia are often observed in patients with hypertrophic cardiomyopathy (HCM) and they often alter the clinical features of HCM. We examine the influence of supraventricular tachycardia on cardiac function and assess the clinical

[Electric stimulation of the brain in patients with hepatocerebral Wilson-Konovalov's degeneration (neuromorphological and neurophysiological analysis)].

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36 stereotactic operations were carried out in 27 patients. Either the total lack of hyperkinesis or its significant decrease was found in 17 cases; 5 patients died. There was no correlation between manifestations of hepatocerebral degeneration and relatively normal quantitative characteristics of

Spinocerebellar degenerations.

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The spinocerebellar ataxias (SCA) are a large group of inherited disorders affecting the cerebellum and its afferent and efferent pathways. Their hallmark symptom is slowly progressive, symmetrical, midline, and appendicular ataxia. Some may also have associated hyperkinetic movements (chorea,

Simultaneous EMG-functional MRI recordings can directly relate hyperkinetic movements to brain activity.

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OBJECTIVE To apply and validate the use of electromyogram (EMG) recorded during functional magnetic resonance imaging (fMRI) in patients with movement disorders, to directly relate involuntary movements to brain activity. METHODS Eight "familial cortical myoclonic tremor with epilepsy" (FCMTE)

[Clinical presentations of neurological forms of hepatolenticular degeneration in Primorsky Krai].

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Clinical characteristics of neurological forms of hepatolenticular degeneration (HLD) were studied in one of the regions of Russia (Primorsky Krai) in the sample of 111 patients at the wide age range (average 35.6 years); mean time since the diagnosis was 13.7 years. According to N.V. Konovalov's

Infantile multiple system atrophy with cytoplasmic and intranuclear glioneuronal inclusions.

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This report presents a case of infantile multiple system atrophy with probably autosomal recessive inheritance. The female patient developed generalized muscular hypotonia, myoclonias and tonic-clonic seizures at the age of 8 months, followed by gradual development of choreoathetotic hyperkinesia

Acquired hepatocerebral degeneration and hepatic encephalopathy: One or two entities?

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Background: Acquired hepatocerebral degeneration (AHD) and hepatic encephalopathy (HE) are neurological complications of chronic liver disease (CLD) with portosystemic shunt. While HE is common, AHD is a rare entity and the

[Dyscephalia-cataracta congenita-hypotrichosis (DCH) syndrome (Ullrich-Fremerey-Dohna, Hallermann-Streiff, Francois). Report of a case showing extrapyramidal hyperkinesia and dementia (author's transl)].

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In a 43-year-old man dyscephalia, cataracta congenita, and hypotrichosis were the outstanding features. These signs were first described in 1953 by Ullrich and Fremerey-Dohna as a clinical entity. Since 1958 the DCH syndrome was published under the synonyms of "Francois syndrome" and of

Cognitive approach to rehabilitation in children with hyperkinetic movement disorders post-DBS.

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This proof-of-concept feasibility trial examined the potential of the Cognitive Orientation to daily Occupational Performance Approach (CO-OP) to augment deep brain stimulation (DBS) outcomes in childhood-onset hyperkinetic movement disorders (HMD) including dystonia and dyskinetic

Pallidoluysian atrophy: dystonia and basal ganglia functional anatomy.

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The clinical correlates of "pure" pallidoluysian atrophy are not well described. A 59-year-old man presented with 20 years of progressive generalized dystonia, dysarthria, gait disorder, supranuclear vertical gaze palsy, and bradykinesia. At autopsy there was severe bilateral atrophy of the external

Case of pediatric acquired chronic hepatocerebral degeneration.

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Acquired chronic hepatocerebral degeneration is a central nervous system disorder secondary to several conditions related to hepatic dysfunction. Clinical features of acquired chronic hepatocerebral degeneration include a hyperkinetic extrapyramidal syndrome, neuropsychiatric symptoms, or both. We

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