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...

OBJECTIVE To evaluate the different etiologies and clinical subtypes of bilateral vestibular hypofunction (BVH) and the value of diagnostic tools in the diagnostic process of BVH. MATERIALS AND METHODS A retrospective case review was performed on 154 patients diagnosed with BVH in a tertiary referral center, between 2013 and 2015. Inclusion criteria comprised (1) imbalance and/or oscillopsia ...

Objective—Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant cerebellar ataxia (ADCA) of which the mutation causing the disease has recently been characterised as an expanded CAG trinucleotide repeat in the gene coding for the á1A-subunit of the voltage dependent calcium channel. The aim was to further characterise the SCA6 phenotype Methods—The SCA6 mutation was investigated in 69 G...

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...

Sensory neuronopathies (SNNs) encompass paraneoplastic, infectious, dysimmune, toxic, inherited, and idiopathic disorders. Recently described diagnostic criteria allow SNN to be differentiated from other forms of sensory neuropathy, but there is no validated strategy based on routine clinical investigations for the etiological diagnosis of SNN. In a multicenter study, the clinical, biological, ...

objectives upon completion of this presentation, participants will be able to: 1) recognize mri appearance of the spontaneous intracranial hypotension and idiopathic intracranial hypertension (pseudotumor cerebri). 2) review their various clinical and imaging presentations. conclusions in this presentation we will review imaging presentations of our several proved cases. as mentioned, there are...

PURPOSE To investigate whether individuals, with no family history of ataxia telangiectasia (AT), in whom idiopathic or radiation-induced ocular telangiectasia developed are carriers of ATM gene mutations. METHODS The ATM cDNA from lymphoblastoid cell lines established from 16 patients with idiopathic retinal or choroidal telangiectasia and 14 patients with radiation-induced telangiectasia af...

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 ...