The first Indian patient with Hereditary Spastic Paraparesis type 42 due to a de novo SLC33A1 variant
Objective: Hereditary Spastic Paraparesis (HSP) 42 is an autosomal dominant HSP caused by pathogenic mutations in the SLC33A1 gene. This subtype has been reported from 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…The Profile of Cerebellar Ataxia in Neurology Patients at National Tertiary Referral Hospital in Indonesia
Objective: This study aimed to portray the profile of Cerebellar Ataxia Background: Cerebellar ataxia refers to incoordination due to dysfunction of the cerebellum. It can…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…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.