Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.
Objective: Report a case of ARSACS in a patient with 2 siblings also affected Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare…Neuropsychiatric Manifestations in Patients with Degenerative Cerebellar Ataxias from Serbia
Objective: This study aimed to evaluate the various cognitive and psychiatric manifestations in patients with DCA. Background: Degenerative cerebellar ataxias (DCA) are diseases with complex…Autosomal recessive cerebellar ataxias: a Tunisian cohort of 168 patients
Objective: The aim of our study is to describe epidemiological, clinical and paraclinical features of the different autosomal recessive cerebellar ataxias (ARCA) identified in our…Acute Ataxia in children : a North-African Single Center Experience
Objective: The aim of our study is to define the most common clinical presentations, etiology and predictive factors of poor outcome in children presenting with…Electrophysiological study of 122 Tunisian patients with autosomal recessive cerebellar ataxia
Objective: We aim through this study to describe the electrophysiological features of the different Autosomal recessive cerebellar ataxias (ARCA) in our population in order to…A Novel SLC9A1 Mutation Associated with Cerebellar Ataxia and Sensorineural Hearing Loss
Objective: To report a novel genetic mutation in the SLC9A1 gene presenting with childhood onset ataxia and sensorineural hearing loss. Background: Lichtenstein-Knorr syndrome is a…Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report
Objective: to describe clinical features and diagnostic tests in a patient with Ataxia Telangiectasia (AT) in Vietnam. Background: AT is a rare hereditary syndrome, the…Phenotypic Variability of PRNP and Related Movement Disorders
Objective: Delineation of clinical and genetic features of PRNP-related movement disorders in two families. Background: Genetic prion disease can have a variable and overlapping phenotypic presentation…Syllable-based speech characteristics as potential biomarker for differential diagnosis of Parkinson’s disease, multiple system atrophy, and cerebellar ataxia
Objective: To analyze syllable-based speech characteristics in patients with Parkinson’s disease (PD), multiple system atrophy (MSA), and cerebellar ataxia (CA) to determine if there is…Opsoclonus after Covid-19 infection
Objective: Describe the first Brazilian case of opsoclonus due to COVID-19 infection Background: Opsoclonus-myoclonus is a rare movement disorder associated with a variety of conditions,…
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