cerebellar ataxias are a heterogenous group of disorders, clinically and etiologically, that result in considerable health burden. finding out about the various etiologies, and their relative prevalences in the population suffering from cerebellar ataxia helps the clinician to perform a better management, in treatment process. this is a cross sectional study designed to estimate the relative pr...

ataxia-telangiectasia (at) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition. the atm gene on human chromosome 11q22.3 has recently been identified as the gene responsible for ataxia-telangiectasia (at). the gene mutated in at, which has been designated as the atm gene, encodes a large protein kinase with a pi...

The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), presenting with spinocerebellar ataxia, dysarthria, nystagmus, and paraparesis, is a gradually progressive hereditary disease. Sensorimotor polyneuropathy may also accompany the symptoms. Herein, we present electrophysiologic findings Turkish family ARSACS in combination clinical genetic features to better describe characte...

Objective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease. Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging thirteen patients with ataxia in the last five years were reported this study. Phenotypic expressions genetically proved mutation also reviewed. Results: We report ...

the hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. frequently, atrophy of the cerebellum occurs. the hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. genetic forms of ataxia must be distinguished from t...

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: 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...