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…Atypical spinocerebellar ataxia (SCA) type 16 as initial presenting migraine and mild ataxia with cerebellar atrophy
Objective: Our aim is to report an atypical case of initial manifestation of spinocerebellar ataxia type 16, which showed migraine and mild ataxia with cerebellar…Movement Disorder Presentations in Leukoenephalopathy with Calcifications and Cysts
Objective: The aim of this study is to describe the movement disorder phenotypes within a cohort of individuals with Leukoencephalopthy with Calcifications and Cysts. Background:…When the Nephrologist calls… Ataxia, Seizures, and Hypokalemia – EAST syndrome and KCJN10 gene mutation
Objective: To present a case study of a 32-year-old woman with pathogenic variant in KCJN10 gene exhibiting ataxia and dystonic posturing with recurrent severe hypokalemia…Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…SLC39A8-CDG with manganese deficiency in an adult individual: a case report
Objective: To report the case of an adult male with SLC39A8-CDG and evaluate the effects of manganese supplementation on clinical evolution of the patient. Background:…Prevalence of Heterozygous ATP7B Mutation in Patients with Movement Symptoms
Objective: The objective of our study is to elucidate the prevalence of heterozygous ATP7B mutation in patients with movement symptoms. We aim to determine whether…A Rare Case Of Young Onset Ataxia: Spinocerebellar Ataxia Type 40
Objective: Spinocerebellar ataxias a heterogeneous group autosomal dominant neurodegenerative diseases with the main clinical feature of ataxia. Among various types, spinocerebellar ataxia type 40 (SCA40)…A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS
Objective: We describe a unique case of a 68-year-old man with chronic ataxia, spasmodic cough, neuropathy and hearing loss who was initially felt to have…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…
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