نتایج جستجو برای: neuroacanthocytosis
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Introduction: Neuroacanthocytosis (NA) is a heterogeneous neurodegenerative genetic disorder caused by disease specific genetic mutation. Being an extremely rare disorder, only a few thousand cases have been reported till date. This clinical entity was described by Citchley et al. and was initially named Levine–Citchley syndrome. It is characterized by movement disorder due to degeneration of t...
Choreoacanthocytosis, more broadly called neuroacanthocytosis, is a rare neurodegenerative disorder usually inherited as an autosomal recessive trait. It is one of the neuroacanthocytosis syndromes characterized by neurological problems and acanthocytosis. Symptoms typically become apparent between the ages of 25 and 45. The disorder may be characterized by chorea, dystonia, a buckling gait, ti...
Chorea-Acanthocytosis (ChAc) is a rare hereditary neurological disorder characterized by abnormal movements, red blood cell pathology, and progressive neurodegeneration. Little is understood of the pathogenesis of ChAc and related disorders (collectively Neuroacanthocytosis). The Eighth International Chorea-Acanthocytosis Symposium was held in May 2016 in Ann Arbor, MI, USA, and focused on mole...
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis and progressive degeneration of the basal ganglia. NA syndromes are exceptionally rare with an estimated prevalence of less than 1 to 5 per 1'000'000 inhabitants for each disorder. The core NA syndromes include autosomal recessive chorea-acanthocytosis...
BACKGROUND The two core neuroacanthocytosis (NA) syndromes, chorea-acanthocytosis (ChAc) and McLeod syndrome, are progressive neurodegenerative disorders that primarily affect the basal ganglia. The characteristic phenotype comprises a variety of movement disorders including chorea, dystonia, and parkinsonism, as well as psychiatric and cognitive symptoms attributable to basal ganglia dysfuncti...
To cite: Sharma C, Nath K, Acharya M, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014205232 DESCRIPTION We present the case of a 25-year-old man who had progressive generalised choreoathetosis, orofacial dyskinesia, feeding dystonia ( jaw closure dystonia), lip biting and cervical dystonia (retrocollis) for the past 2 years. Over the past 6 months he h...
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