background: optical coherence tomography (oct) is a simple, high-resolution technique to quantify the thickness of retinal nerve fiber layer (rnfl) and macula volume, which provide an indirect measurement of axonal damage in multiple sclerosis (ms). this study aimed to evaluate oct finding in relapsing-remitting ms patients of the northwest of iran and compare them with a normal control group. ...

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...

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) was first described among French Canadian patients from Québec presenting with a stereotypical triad of early-onset cerebellar ataxia, spastic paraplegia and peripheral neuropathy. Two recurring pathogenic mutations in the SACS gene were subsequently identified in these families in keeping with a mutational founder event in a ge...

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...

Case presentation: We report a case of Lafora Disease (LD) in 16-year-old boy with prior diagnosis learning disabilities. Symptoms appear almost 1 year ago, myoclonic seizures and tonic clonic generalized. After he develop few episodes sudden transient blindness, dysarthria, ataxia, frequent jerks prominently the upper limbs face cognitive impairment. Multiple anticonvulsants therapy produced n...

objective mitochondrial dna (mtdna) is considered a candidate modifier factor for neuro-degenerative disorders. the most common type of ataxia is friedreich's ataxia (fa). the aim of this study was to investigate different parts of mtdna in 20 iranian fa patients and 80 age-matched controls by polymerase chain reaction (pcr) and automated dna sequencing methods to find any probable point mutati...

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Mutations in nuclear genes required for the replication and maintenance of mitochondrial DNA cause progressive multisystemic neuromuscular disorders with overlapping phenotypes. Biallelic mutations in C10orf2, encoding the Twinkle mitochondrial DNA helicase, lead to infantile-onset cerebellar ataxia (IOSCA), as well as milder and more severe phenotypes. We present a 13-year-old girl with ataxia...

BACKGROUND Alternating hemiplegia of childhood (AHC) is a rare neurological disorder that manifests recurrent attacks of hemiplegia, oculogyric, and choreoathetotic involuntary movements. De novo mutations in ATP1A3 cause three types of neurological diseases: AHC; rapid-onset dystonia-Parkinsonism (RDP); and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss ...

Ataxia is a kind of external characteristics when the human body has poor coordination and balance disorder, it often indicates diseases in certain parts body. Many internal factors may causing ataxia; currently, observed characteristics, combined with Doctor’s personal clinical experience play main roles diagnosing ataxia. In this situation, different kinds be confused, leading to delay treatm...