نتایج جستجو برای: optic ataxia
تعداد نتایج: 62591 فیلتر نتایج به سال:
Background and purpose: Optic neuritis is one of the common causes of unilateral or bilateral visual loss. The most common cause of this disorder is demyelinating disease of the central nervous system (CNS) and most of the patients with optic neuritis will present other signs of multiple sclerosis (MS). The diagnosis depends on the clinical findings, however, magnetic resonance imaging (MRI) is...
Background: Ataxia-telangiectasia (AT) is an autosomal recessive neurodegenerative disorder caused by variants of ATM (ataxia telangiectasia mutated) gene. These patients develop metabolic changes over time. We aimed to assess the correlation between neurological features, nutritional status, and in AT patients.Methods: Cross-sectional study with prospective data from 25 aged 5 31 years.Results...
Abstract Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, relapsing encephalopathy ataxia (all ATP1A3). A few r...
Background: Opsoclonus myoclonus ataxia syndrome (OMAS) is a rare, immune-mediated neurological disorder that usually starts in the second year of life. The triad signs composed opsoclonus, and ataxia. In addition, there often irritability sleep disturbance. about 50% children an underlying neuroblastoma.
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral system (PNS), affecting children young adults. Its onset before 25 years age, with mean ages death between 11 38 years, respectively. The incidence 1 in 30,000–50,000 persons. It caused, 97% cases, homozygous guanine-adenine-adenin...
BACKGROUND Heterozygous mutations in OPA1 are a common cause of autosomal dominant optic atrophy, sometimes associated with extra-ocular manifestations. Few cases harboring compound heterozygous OPA1 mutations have been described manifesting complex neurodegenerative disorders in addition to optic atrophy. RESULTS We report here three patients: one boy showing an early-onset mitochondrial dis...
Tripeptidyl peptidase 1 (TPP1) deficiency causes CLN2 disease, late infantile (or classic late infantile neuronal ceroid lipofuscinosis), a paediatric neurodegenerative disease of autosomal recessive inheritance. Patients suffer from blindness, ataxia, epilepsy and cognitive defects, with MRI indicating widespread brain atrophy, and profound neuron loss is evident within the retina and brain. C...
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