MDS Abstracts

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

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Articles tagged "Ataxia: Genetics"

  • 2024 International Congress

    Variant Ataxia Telangiectasia: A Novel ATM Gene Mutation With Disabling Tremor and Response to Deep Brain Stimulation

    S. Giri Ravindran, A. Rajput, N. Noyes (Saskatoon, Canada)

    Objective: We describe a patient with a novel ATM gene variant presenting with tremor, neuropathy, and late-onset ataxia. Background: Ataxia Telangiectasia (AT) is an autosomal…
  • 2024 International Congress

    Progressive Cerebellar Ataxia as the Predominant Symptomatology of SGP-7 Compound Heterozygote Pathogenic Variants related HSP-7

    D. Menghani, T. Yamasaki (Nicholasville, USA)

    Objective: Analyze a clinical case detailing the presentation of a patient primarily exhibiting gradual onset balance disturbances, subsequently diagnosed with HSP-7, elucidating key diagnostic challenges…
  • 2024 International Congress

    Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies

    D. Dhar, V. Holla, P. Phulpagar, R. Yadav, N. Netravathi, B. Muthusamy, P. Pal (Bangalore, India)

    Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…
  • 2024 International Congress

    Novel Partial Gene Deletion in CaCNA1A Presenting with Gait Ataxia, Vertigo, and Abnormal Eye Movements

    D. Mohanty, I. Bledsoe (San Francisco, USA)

    Objective: To report a partial gene deletion in CaCNA1A associated with ataxia. Background: CaCNA1A gene, located on chromosome 19p, encodes the alpha-1a subunit of the…
  • 2024 International Congress

    Spinocerebellar Ataxia Type 49 presenting with Early onset Dystonia-Ataxia in an Indian Female

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

    Objective: To report the first Indian patient with SCA 49 who presented in the second decade and to expand the clinical phenotype to include dystonic…
  • 2024 International Congress

    Complex Movement Disorders in Late Onset TPP1 Gene Mutation (Atypical Neuronal Ceroid Lipofuscinosis Type 2)

    M. Soares, T. Coradine, P. Fraiman, V. Procaci, T. Silva, O. Barsottini, J. Pedroso (São Paulo, Brazil)

    Objective: To describe an atypical late onset phenotypical presentation of a homozygous TPP1 mutation with complex movement disorders. Background: TPP1 mutations, lead to deficiency of…
  • 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

    An Unusual and Treatable Cause of Cerebellar Ataxia and Dystonia: Homozygous COQ4 Gene Mutation

    T. Coradine, M. Soares, P. Fraiman, L. Corazza, T. Silva, J. Pedroso, O. Barsottini (Sao Paulo, Brazil)

    Objective: To report a case of Coenzyme Q10 (CoQ10) deficiency due to COQ4 variants causing adult-onset ataxia and dystonic postures. Background: CoQ10 is an essential…
  • 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

    Mixed Cerebellar Ataxia in a Patient with a Novel FAT2 Gene Variant Associated with SCA45

    A. Richmond, M. Nashatizadeh, R. Townley (Columbia, USA)

    Objective: We describe a patient with late-onset ataxia, cognitive impairment, and parkinsonism with a novel missense variant in FAT2, a gene implicated in spinocerebellar ataxia…
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