MDS Abstracts

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

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Articles tagged "Ataxia: Genetics"

  • 2024 International Congress

    Prevalence of Heterozygous ATP7B Mutation in Patients with Movement Symptoms

    Y. Kim, D. Park, J. Yoon (Suwon, Republic of Korea)

    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…
  • 2024 International Congress

    A Rare Case Of Young Onset Ataxia: Spinocerebellar Ataxia Type 40

    Y. Degirmenci (Istanbul, Turkey)

    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)…
  • 2024 International Congress

    A Unique case of Ataxia, Neuropathy, and chronic cough: CANVAS

    R. Vasireddy, Y. Sun (Lexington, USA)

    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…
  • 2024 International Congress

    Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.

    H. Pacheco Mendoza, L. Nuñez Orozco, P. Briseño López, A. Negrete Gómez, J. Delgado Uriarte (Mexico, Mexico)

    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…
  • 2024 International Congress

    Diagnostic challenges with novel SCA variants: A case of STUB1 mutation

    D. Vijaywargiya, A. Frank, T. Chabrashvili (Liverpool, USA)

    Objective: We present a case of SCA48 found on multi-gene sequencing panel [MGSP] after negative dementia workup. Background: Spinocerebellar ataxia [SCA] is a genotypically &…
  • 2024 International Congress

    Dopa-responsive ataxia with compound heterozygous variants in MRE11

    A. Dugar, E. Levine, M. Barbosa, W. Tse (New York, USA)

    Objective: To evaluate the role for levodopa in patients with ataxia telangiectasia like disorder (ATLD) who have a compound heterozygous mutation in MRE11. Background: Early-onset…
  • 2024 International Congress

    Autosomal recessive cerebellar ataxias: a Tunisian cohort of 168 patients

    L. Hlioui, R. Zouari, R. Amouri, MZ. Saied, D. Ben Mohamed, A. Rachdi, S. Ben Sassi (Tunis, Tunisia)

    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…
  • 2024 International Congress

    Spastic Ataxia Associated with Congenital Myasthenia Related to the VAMP1 Gene: Report of an Affected Family in Brazil.

    J. Balbino, F. Kok, S. Camargos (Belo Horizonte, Brazil)

    Objective: To describe a family with both congenital myasthenia and spastic ataxia Background: The vesicle-associated membrane protein - VAMP1 is associated with synaptic activation in…
  • 2024 International Congress

    Phenotypic variability of mitochondrial tRNA Ser(UCN) gene [MTTS1] mutation: First report from India

    N. Pandita, J. Ganguly, P. Basu, N. Singh, S. Mukherjee, H. Kumar (Kolkata, India)

    Objective: To describe a rare cause of mitochondrial ataxia in an Indian Agarwal family, associated with cytochrome c oxidase deficiency due to point mutation in…
  • 2024 International Congress

    Electrophysiological study of 122 Tunisian patients with autosomal recessive cerebellar ataxia

    L. Hlioui, R. Zouari, R. Amouri, MZ. Saied, D. Ben Mohamed, A. Rachdi, S. Ben Sassi (Tunis, Tunisia)

    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…
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