MDS Abstracts

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

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Articles tagged "Gait disorders: Genetics"

  • 2018 International Congress

    A strategic approach to understand microsatellite repeat loci among Indian spinocerebellar ataxia patients

    V. Suroliya, M. Faruq, A. Srivastava (New Delhi, India)

    Objective: To identify novel unstable tandem nucleotide repeat loci in uncharacterized ataxia patients. Background: Microsatellites like tandem nucleotide repeats are of importance to human genome…
  • 2018 International Congress

    Evaluation of Balance in Hereditary Ataxias

    H. Teive, B. Zeigelboim, R. Santos, S. Dias, N. Mello, V. Fonseca (Cuitiba, Brazil)

    Objective: To describe and compare the vestibular findings most evident among the hereditary ataxia, as well as correlate their clinical aspects to the study of…
  • 2018 International Congress

    Novel CACNA1A gene mutation in a Taiwan family with episodic ataxia type 2

    KF. Chen, CH. Tsai, DC. Wu (Taichung, Taiwan)

    Objective: To illustrate a family of episodic ataxia type 2 with atypical presentations and a novel mutation of CACNA1A gene Background: The episodic ataxias (EAs)…
  • 2018 International Congress

    Clinical and mutation spectrum of Ataxia with oculomotor apraxia-2: An Indian perspective

    S. Shakya, M. Faruq, A. Srivastava, I. Singh, A. Garg, R. Rajan, V. Goyal (New Delhi, India)

    Objective: To report clinical and mutation spectrum of AOA2 in Indian population Background: The Autosomal Recessive Cerebellar Ataxias (ARCAs) are less explored in Indian population.…
  • 2018 International Congress

    Novel GBA risk factor gene mutation p.W378R in a kindred with Gaucher’s disease and Parkinson’s disease

    M. Lubomski, M. Hayes, M. Kennerson, M. Ellis, S. Chu, J. Blackie, J. O’Sullivan, G. Nicholson (Sydney, Australia)

    Objective: We undertook mutation analysis of the Glucocerebrosidase gene (GBA) gene in a large three-generational Australian kindred consisting of some individuals with both type 1…
  • 2018 International Congress

    Nucleotide repeats as genetic risk factors in a Swedish Parkinson’s disease cohort

    J. Laffita Mesa, L. Brodin, P. Svenningsson (Stockholm, Sweden)

    Objective: To search for abnormal NRE in the following genes: ATXN2, ATXN3, CACNA1A, TBP, c9orf72, PRNP, POLG1A and TOMM40 in a Swedish PD cohort. Background:…
  • 2018 International Congress

    Research on nearinfrared brain function imaging for Freezing of Gait in Parkinson’s Disease

    Y. Jingjing, L. Zhanhua, C. Ming (Dalian, China)

    Objective: In the study ,fNIRS technique was used to study the activation level and activation mode of prefrontal cerebral cortex for patients with FOG under…
  • 2017 International Congress

    Kufor-Rakeb Syndrome due to a Novel ATP13A2 Mutation in two Chinese brothers

    E. Noch, N. Hellmers, C. Henchcliffe, H. Sarva (New York, NY, USA)

    Objective: To describe Kufor-Rakeb Syndrome (KRS) due to a novel ATP13A2 1459 C>T mutation in two Chinese siblings. Background: Kufor-Rakeb Syndrome is a rare autosomal…
  • 2017 International Congress

    Pure ATXN10 repeat expansion causes Parkinson’s disease

    F. Jimenez Gil, K. McFarland, K. Lee, Y.-C. Tsai, C. Byrne, R. Gopi, N. Huang, J. Langston, T. Clark, T. Ashizawa, B. Schuele (Guadalajara, Jalisco, Mexico)

    Objective: Clinical and genetic characterization of a multigenerational family with spinocerebellar ataxia type 10 (SCA10) and parkinsonism. Background: Pentanucleotide repeat expansions of ATTCT in intron…
  • 2017 International Congress

    Сase of myotonic dystrophy

    A. Jusupova (Bishkek, Kyrgyzstan)

    Objective: Myotonic dystrophy (dystrophia myotonica, DM) is the most frequently inherited neuromuscular disease of adult life.  Background: Classical DM (DM1) has been identified as an…
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