MDS Abstracts

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

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Articles tagged "Tremors: Genetics"

  • 2016 International Congress

    Triple X syndrome: Are tremors part of its phenotype?

    X. Garcia, M.E. Mohammad, H. Fernandez, I. Itin (Cleveland, OH, USA)

    Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…
  • 2016 International Congress

    L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency

    N.K. Iwata, H. Shintaku, S. Shibata, K. Takeda, J. Goto (Tokyo, Japan)

    Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…
  • 2016 International Congress

    Analysis of LINGO1 and LINGO2 genes in essential tremor and Parkinson’s disease

    N.Y. Abramycheva, M.S. Stepanova, E.Y. Fedotova, E.O. Ivanova, S.N. Illarioshkin (Moscow, Russia)

    Objective: We studied the involvement of LINGO1 and LINGO2 in Russian patients with ET and PD. Background: Genetics of ET is unclear. Three candidate loci…
  • 2016 International Congress

    Fragile X-associated tremor/ataxia syndrome in two female patients

    L. Hvizdosova, M. Kaiserova, K. Mensikova, P. Kanovsky (Olomouc, Czech Republic)

    Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…
  • 2016 International Congress

    Two new cases of a novel ovario-leukodystrophy related to AARS2 mutation from Korea

    H.J. Yang, J.M. Lee, J.H. Kwon, S.T. Lee, H.J. Kim, B. Jeon (Ulsan, Korea)

    Objective: Progressive leukoencephalopathy with primary ovarian failure (LKENP; OMIM # 615889) is a novel ovario-leukodystophy caused by compound heterozygote mutations in the AARS2 gene of…
  • 2016 International Congress

    SLC6A17 mutations are not a common cause of intellectual disability and movement disorders in a large cohort of consanguineous Iranian families

    I.A. Meijer, L.J. Azcona, H. Darvish, C. Paisán-Ruiz (New York, NY, USA)

    Objective: To determine the prevalence of SLC6A17 mutations in a cohort of Iranian patients with intellectual disability and movement disorders. Background: Mutations in the SLC6A17…
  • 2016 International Congress

    Paediatric and adult-onset parkinsonism in Chediak-Higashi disease: A new family

    M. Carecchio, E. Salsano, A. Legati, C. Lamperti, E. Corsini, B. Garavaglia, D. Pareyson, D. Ghezzi (Milan, Italy)

    Objective: To report two siblings affected by Chediak-Higashi syndrome (CHS) presenting with a pure neurological phenotype including paediatric and adult-onset parkinsonism. Background: CHS is a…
  • 2016 International Congress

    Study on association between physical and genetics role in essential tremor – A case control study

    K. Kalimuthu, C. Ramachandran, M. Kadarkarai, V. Savariar (Coimbatore, India)

    Objective: To elucidate the relationships between physical and genetics parameters in essential tremor patients and controls. Tremor is an involuntary, rhythmic shaking of any part…
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