MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

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Articles tagged "Early-onset cerebellar ataxia(EOCA)"

  • 2025 International Congress

    Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia

    R. Devaraj, R. Yadav, J. Saini, S. Hegde, M. Faruq, P. Pal (Bengaluru, India)

    Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia2. To describe the imaging findings and to assess the neuropsychological profile…
  • 2025 International Congress

    AOA1 Versus AOA2 : A Comparative Study Of A Tunisian Cohort

    L. Hlioui, R. Zouari, R. Amouri, H. Kharrat, A. Rachdi, D. Ben Mohamed, MZ. Saeid, F. Nabli, S. Ben Sassi (Tunis, Tunisia)

    Objective: The aim of our study is to compare the epidemiological, clinical, paraclinical and follow-up features of AOA1 and AOA2 in order to identify distinctive…
  • 2025 International Congress

    Clinical and Genetic Spectrum of Early-Onset Cerebellar Ataxia in India: A Tertiary Care Center Experience

    M. Raval, V. Holla, G. Arunachal, R. Raghavendra, N. Kamble, R. Yadav, P. Pal (Bengaluru, India)

    Objective: To characterize the genetic landscape of early-onset cerebellar ataxia excluding repeat expansion disorders. Background: Early-onset cerebellar ataxia (EOCA, age at onset ≤ 20 years) encompasses a diverse group of disorders with significant…
  • 2025 International Congress

    Friedreich Ataxia Versus Ataxia With Vitamin E Deficiency : A Comparative Study Of Electrophysiological Features

    R. Zouari, L. Hlioui, R. Amouri, C. Jeridi, D. Ben Mohamed, MZ. Saeid, A. Rachdi, F. Nabli, S. Ben Sassi (Tunis, Tunisia)

    Objective: Our aim is to compare the electrophysiological features of FRDA and AVED in order to identify distinctive characteristics of both diseases. Background: Autosomal recessive…
  • 2024 International Congress

    The Profile of Cerebellar Ataxia in Neurology Patients at National Tertiary Referral Hospital in Indonesia

    I. Permatasari, A. Tiksnadi, D. Tunjungsari (Jakarta, 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…
  • 2024 International Congress

    A Novel Mutation of NKX2-1 Gene: A Rare Presentation of Chorea

    BC. Ari, S. Canbek, G. Kenangil (ISTANBUL, Turkey)

    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…
  • 2024 International Congress

    A Novel SLC9A1 Mutation Associated with Cerebellar Ataxia and Sensorineural Hearing Loss

    S. Dharmadhikari, Y. Kianirad (Chicago, USA)

    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…
  • 2024 International Congress

    PMM2 mutation

    H. Teive, J. Duarte, LE. de Farias, S. Raskin, F. Tensini, D. Amarante (Curitiba, Brazil)

    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.…
  • 2024 International Congress

    The first Indian patient with Hereditary Spastic Paraparesis type 42 due to a de novo SLC33A1 variant

    A. Agarwal, P. Sharma, D. Garg, A. Garg, M. Faruq, A. Srivastava (New Delhi, India)

    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…
  • 2024 International Congress

    Ataxia Telangiectasia Diagnosis in Lower-Middle-Income Countries: A Case Report

    H. Ngo Thi, T. Nguyen Anh (Hanoi, Viet Nam)

    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…
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