A cause for childhood ataxia
نویسنده
چکیده
Genetic studies uncover a mutation in a widely conserved protein as the cause of a neurological disorder in two brothers.
منابع مشابه
Phospho-SMC1 in-Cell ELISA based Detection of Ataxia Telangiectasia
BackgroundAtaxia telangiectasia (A-T) is a common genetically inherited cause of early childhood-onset ataxia. The infrequency of this disease, vast phenotype variation, disorders with features similar to those of A-T, and lack of definite laboratory test, make diagnosis difficult. In addition, there is no rapid reliable laboratory method for identifying A-T heterozygotes, who susceptible to i...
متن کاملPrimate Erythroparvovirus 1 (Parvovirus B19): An Etiologic Agent of Ataxia and Cerebellar Disease?
Ataxia, a gross lack of motor control, is symptomatic of broader neurological disorder, typically of the cerebellum. A few case reports have documented the association of primate erythroparvovirus 1 [more commonly known as human parvovirus B19 (B19)] with ataxia. Parvoviruses are small DNA viruses that infect many different species. B19 is a well-known cause of erythema infectiosum, a common ra...
متن کامل309-316 Ryan
Acute childhood ataxia is a common cause of presentation to the pediatric emergency room or child neurologist. The primary concern on initial assessment is to exclude serious causes of this clinical syndrome, including central nervous system infections and mass lesions, while recognizing the essentially benign nature of acute ataxia in most children. Childhood ataxia can be diagnostically appro...
متن کاملContribution of Somatic and Dendritic SK Channels in the Firing Rate of Deep Cerebellar Nuclei: Implication in Cerebellar Ataxia
Introduction: Loss of inhibitory output from Purkinje cells leads to hyperexcitability of the Deep Cerebellar Nuclei (DCN), which results in cerebellar ataxia. Also, inhibition of small-conductancecalcium-activated potassium (SK) channel increases firing rate f DCN, which could cause cerebellar ataxia. Therefore, SK channel activators can be effective in reducing the symptoms of this disease, ...
متن کاملPOLG1 manifestations in childhood.
OBJECTIVE Mitochondrial DNA polymerase γ (POLG1) mutations in children often manifest as Alpers syndrome, whereas in adults, a common manifestation is mitochondrial recessive ataxia syndrome (MIRAS) with severe epilepsy. Because some patients with MIRAS have presented with ataxia or epilepsy already in childhood, we searched for POLG1 mutations in neurologic manifestations in childhood. METHO...
متن کامل