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…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…PMM2 mutation
Objective: describe glycosylation type 1A PMM2 mutation presented as motor development regression and cognitive impairment proving to be a disease that should’ve been detected precociously.…Clinical spectrum, imaging characteristics and care giver burden assessment of early onset non-dominant progressive cerebellar ataxias
Objective: To characterise the phenotypic and radiological spectrum of patients with early onset non-dominant progressive cerebellar ataxias and to assess the impact of the disease…A Peruvian family with neurodegeneration with ataxia, dystonia and gaze palsy, childhood-onset (NADGP): A case report
Objective: To describe the clinical features of three affected siblings with NADGP Background: Neurodegeneration with ataxia, dystonia and gaze palsy, childhood-onset (NADGP), is an autosomal…Cervical Dystonic Tremor: A Characteristic Feature Of Ataxia With Vitamin E Deficiency
Objective: we aimed to investigate the clinical features of Ataxia with vitamin E deficiency (AVED) patients and compare it with Friedreich ataxia (FRDA) patients. Background:…Clinical, imaging and genetic characteristics from an Indian ARSACS cohort
Objective: Provide insight into SACS mutations in India, by targeted gene panel of a suspected cohort. Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), caused…Reliability and Validity of the Greek Translation of the Scale for Assessment and Rating Ataxia in Ataxic Children
Objective: Translation and Cross-cultural adaptation of the Scale for Assessment and Rating Ataxia (SARA) in Greek ataxic pediatric population. Background: Ataxia in the pediatric population…Mutations of COX20 affect the assembly and function of complex IV causing early onset ataxia, dystonia and neuropathy
Objective: To find the causes of an early onset complex movement disorder in two sisters from a non-consanguineous family, and confirm the COX20 variants responsible for such mitochondrial…Recessive CWF19L1 mutations in a family with dystonia-ataxia syndrome
Objective: To enrich the limited clinical and genetic data of an extremely rare recessive ataxia subtype. Background: Advances in NGS techniques led to an increase…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.