Variant Ataxia Telangiectasia: A Novel ATM Gene Mutation With Disabling Tremor and Response to Deep Brain Stimulation
Objective: We describe a patient with a novel ATM gene variant presenting with tremor, neuropathy, and late-onset ataxia. Background: Ataxia Telangiectasia (AT) is an autosomal…Clinical and Genetic Profile of Spinocerebellar Ataxias in a Tunisian Cohort
Objective: Our aim was to determine the clinical, genetic and radiological characteristics of spinocerebellar ataxias (SCA) in a Tunisian cohort. Background: SCA is a heterogenous…Alterations in the Daily Living Gait and Mobility during the Day and Night among Individuals with Cerebellar Ataxia, SCA3: An Exploratory Study
Objective: In this pilot study, we aimed to examine step counts and daily living physical activity, confirm findings regarding gait variability, explore changes in nighttime…Superficial siderosis; a case review
Objective: To highlight an often overlooked cause of ataxia with hearing impairment. Background: Superficial siderosis (SS) of the nervous system is caused by chronic hemosiderin…A Novel Mutation of NKX2-1 Gene: A Rare Presentation of Chorea
Objective: NKX2-1-related disorders encompass a spectrum extending from benign hereditary chorea (BHC) to choreoathetosis, hypothyroidism, neonatal respiratory distress. The prevalence of chorea remains undetermined, albeit…Choreoacanthocytosis: The First Genetically Confirmed Cases From Algeria
Objective: Here we describe for the first time two unrelated cases of genetically confirmed Choreoacanthocytosis from Algeria. Background: Choreoacanthocytosis is a rare and severe inherited…Effect of bilateral internal segment of the globus pallidus deep brain stimulation on acquired multifocal dystonia due to natural gas intoxication.
Objective: To communicate the effectiveness of internal globus pallidus deep brain stimulation (GPi-DBS) on a case of acquired dystonia due to natural gas intoxication. Background:…Real-World Diagnosis of Chronic Migraine in Patients With Cervical Dystonia Analyzed by Botulinum Neurotoxin Treatment Exposure: an Epidemiologic Perspective
Objective: Describe the real-world diagnosis, demographics, and clinical characteristics of chronic migraine (CM) in cervical dystonia (CD) patients stratified by botulinum neurotoxin (BoNT) treatment. Background:…Expanding the concept of “occupational dystonia”: data from the Italian Dystonia Registry
Objective: This study aimed to investigate whether certain occupations are associated with an increased risk of developing specific focal forms of idiopathic adult-onset dystonia (IAOD),…Investigating Impaired Perceptual Decision Making in Cervical Dystonia: A novel paradigm integrating Behavioural and Neural measures
Objective: This research aimed to develop a paradigm measuring perceptual decision making (PDM) to test the hypothesis of impaired PDM in cervical dystonia patients. Background:…
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