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Страница 1 од 179 резултати
Therapeutic interventions in the primary hereditary ataxias.
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UNASSIGNED
The treatment of hereditary ataxia is primarily supportive. With very few exceptions (eg, ataxia associated with vitamin E deficiency), there are no disease-modifying therapies. Despite the lack of disease-modifying treatments, there can be great value in obtaining an accurate diagnosis
Benign paroxysmal tonic upgaze of childhood with ataxia.
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Paroxysmal tonic upgaze deviation (PTU) is a rare neuro-ophthalmological disorder with onset in infancy or early childhood. It consists of episodes of sustained, conjugate, upward deviation of the eyes, down beating saccades in attempted downgaze, apparently preserved horizontal eye movements,
Capecitabine-associated cerebellar ataxia.
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OBJECTIVE
A case of capecitabine-associated cerebellar ataxia is presented.
CONCLUSIONS
A 65-year-old white woman with stage IV colorectal cancer with liver metastasis was started on a chemotherapy regimen of capecitabine, oxaliplatin, and bevacizumab, given every three weeks. She tolerated the
Cerebellar Ataxia.
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There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct
Thiamine and spinocerebellar ataxia type 2.
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Spinocerebellar ataxia type 2 is a genetic disorder characterised by the degeneration of the cerebellum, its connections and degeneration in brainstem areas. Some observations indicate that high doses of thiamine may lead to the partial regression of the symptoms. One patient was under
A case of paroxysmal tonic upgaze of childhood with ataxia.
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Paroxysmal tonic upgaze of childhood is a rare, distinctive, childhood syndrome that may be associated with ataxia and sometimes strabismus or amblyopia. Neurological examination as well as metabolic studies, electroencephalogram and neuroradiological investigations are normal in these patients.
A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
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Episodic ataxia type 1 (EA1) is a human dominant neurological syndrome characterized by continuous myokymia, episodic attacks of ataxic gait and spastic contractions of skeletal muscles that can be triggered by emotional stress and fatigue. This rare disease is caused by missense mutations in the
Venlafaxine reverses chronic fatigue-induced behavioral, biochemical and neurochemical alterations in mice.
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A state of chronic fatigue was produced in mice by subjecting them to forced swim inside a rectangular jar of specific dimensions everyday for a 6 min session for 15 days. Immobility period was recorded on alternate days. The effect of venlafaxine, a dual reuptake inhibitor of serotonin and
Familial Episodic Ataxias and Related Ion Channel Disorders.
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Familial episodic ataxias are unusual hereditary disorders of early onset characterized by recurrent episodes of ataxia. Most patients recover fully between attacks, but some may develop progressive ataxia with cerebellar atrophy. There are two subtypes of episodic ataxia: type 1 (EA1), with
A Brief Historic Overview of Clinical Disorders Associated with Tryptophan: The Relevance to Chronic Fatigue Syndrome (CFS) and Fibromyalgia (FM).
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Last century there was a short burst of interest in the tryptophan related disorders of pellagra and related abnormalities that are usually presented in infancy.1,2 Nutritional physiologists recognized that a severe human dietary deficiency of either tryptophan or the B group vitamins could result
A Case of Therapy-Related Acute Myeloid Leukemia in a Patient With Heterozygous Mutations in the Ataxia Telangiectasia Mutated Gene.
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Use of adjuvant chemotherapy has improved survival for many patients with breast cancer. Unfortunately, such treatment can come at a price, in particular, malignancies. We present a case of a 36-year-old woman with heterozygous mutations in the ataxia telangiectasia mutated (ATM) gene who was
Extra-Cerebellar Signs and Non-motor Features in Chinese Patients With Spinocerebellar Ataxia Type 3.
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Objectives: Our study attempted to systematically explore the prevalence of extra-cerebellar signs and non-motor symptoms, such as anxiety, depression, fatigue, excessive daytime sleepiness (EDS) and sleep disturbances in a cohort of Chinese patients with spinocerebellar ataxia type 3 (SCA3),
Non-motor Symptoms in Patients with Autosomal dominant Spinocerebellar Ataxia
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Objective: The non-motor manifestations of motor predominant disorders has been area of active interest in recent times. The objective of the study was to determine the prevalence of non-motor symptoms in patients with genetically
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.
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BACKGROUND
Cerebellar ataxia (CA) is a frequent and often disabling condition that impairs motor functioning and impacts on quality of life (QoL). No medication has yet been proven effective for the symptomatic or even causative treatment of hereditary or non-hereditary, non-acquired CA. So far, the
New insights into the pathogenesis and therapeutics of episodic ataxia type 1.
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Episodic ataxia type 1 (EA1) is a K(+) channelopathy characterized by a broad spectrum of symptoms. Generally, patients may experience constant myokymia and dramatic episodes of spastic contractions of the skeletal muscles of the head, arms, and legs with loss of both motor coordination and balance.
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