Sir, Opsoclonus-myoclonus syndrome (OMS) is a rare but distinctive disorder, characterized by irregular, continual, and conjugated chaotic saccades of the eyes accompanied by appendicular myoclonus and truncal ataxia. No etiological factor can be found in 50% of adult cases. In 20% of cases it may be paraneoplastic and may also be a manifestation of brainstem stroke or infection. The most commo...

Sir, Opsoclonus-myoclonus syndrome (OMS) is a rare but distinctive disorder, characterized by irregular, continual, and conjugated chaotic saccades of the eyes accompanied by appendicular myoclonus and truncal ataxia. No etiological factor can be found in 50% of adult cases. In 20% of cases it may be paraneoplastic and may also be a manifestation of brainstem stroke or infection. The most commo...

Background. Opsoclonus-myoclonus-ataxia syndrome (OMAS) in adults is an extremely rare condition, often leading to rapidly deteriorated neurological performance. The majority of published cases are considered as being post-infectious, paraneoplastic or idiopathic origin. However, there have been reported few OMAS developed after administration check-point inhibitors used various oncological con...

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...

BACKGROUND The dynamics behavior of patients with idiopathic scoliosis obviously requires some biomechanical compensatory strategies. Our objective is to analyze the ground reaction forces (GRF) exerted during gait initiation in order to determine the dynamic consequences of idiopathic scoliosis. METHODS Ten adolescent girls suffering from idiopathic scoliosis with a right thoracic curvature ...

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.

how to cite this article: heidari mm , khatami m, pourakrami j. novel point mutations in frataxin gene in iranian patients with friedreich’s ataxia. iran j child neurol. 2014 winter; 8(1):32-36.   objective friedreich’s ataxia is the most common form of hereditary ataxia with autosomal recessive pattern. more than 96% of patients are homozygous for gaa repeat extension on both alleles in the fi...

how to cite this article: shervin badv r, niksirat a. downward vertical gaze palsy as a prominent manifestation of episodic ataxia type 2: a case report. iran j child neurol. 2013 autumn; 7(4):58- 60.   objective episodic ataxia type 2 (ea2) is an inherited autosomal dominant disorder characterized by intermittent ataxia, nausea, vomiting, dysarthria, or nystagmus. we report a case of ea2, whic...

The association of high levels of autoantibodies to glutamic acid decarboxylase (GAD-ab) and stiff-person syndrome (SPS) is well known. However, the full spectrum of neurological syndromes associated with GAD-ab is not well established. In addition, these patients usually present type 1 diabetes mellitus (DM1) that could justify the presence of high GAD-ab levels. To clarify these issues, we re...

INTRODUCTION SCA17 is an autosomal dominant cerebellar ataxia with expansion of the CAG/CAA trinucleotide repeats in the TATA-binding protein (TBP) gene. SCA17 can have various clinical presentations including parkinsonism, ataxia, chorea and dystonia. SCA17 is diagnosed by detecting the expanded CAG repeats in the TBP gene; however, in the literature, pathologic repeat numbers as low as 41 ove...