منابع مشابه
Neuroacanthocytosis
The term "neuroacanthocytosis" describes a heterogeneous group of molecularly-defined disorders which result in progressive neurodegeneration, predominantly of the basal ganglia, and erythrocyte acanthocytosis. The clinical presentation of neuroacanthocytosis syndromes typically involves chorea and dystonia, but a range of other movement disorders may be seen. Psychiatric and cognitive symptoms...
متن کاملNeuroacanthocytosis Presenting with Psychiatric Symptoms
An adult male presented with dyskinetic movements of the face and choreiform movements associated with dysphagia and vocaltics.Obsessive compulsive symptoms and depressive symptoms occurred 3 months after the onset of the illness.Peripheral blood smear revealed an excess of acanthocytes. A diagnosis of neuroacanthocytosis was made and he was started on treatment.
متن کاملNeuroacanthocytosis Syndromes
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...
متن کاملManagement of Neuroacanthocytosis Syndromes
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...
متن کاملCerebellar atrophy in neuroacanthocytosis.
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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ژورنال
عنوان ژورنال: Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques
سال: 1990
ISSN: 0317-1671,2057-0155
DOI: 10.1017/s0317167100030602