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

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Articles tagged "Frontotemporal dementias: Genetics"

  • 2024 International Congress

    7year followup of Asia’s first case of sporadic ATP6AP2 Mutation: α-synucleinopathy or tauopathy?

    K. Shukla, N. Sawal, A. Prasad (Mohali, India)

    Objective: ATP6AP2 mutation, previously described in literature to cause early onset Parkinson’s disease (PD) with atypical signs, evolved into frontotemporal lobar degeneration in a 7year…
  • 2023 International Congress

    Tremors and More: A Case Report of TBK1 Mutation and Electrophysiological Assessment

    B. Elahi (Maywood, USA)

    Objective: TBK1 mutations have been associated with a range of neurological disorders, but their association with tremor is not well-documented. Here, we present a case…
  • 2023 International Congress

    Atypical parkinsonism and psychiatric disorder in hereditary diffuse leukoencephalopathy with spheroids: a novel variant in the CSF1R gene

    M. Gea, B. Flores-Pina, D. Vilas-Rolan, A. Castillo-Gandia, C. Carrato-Moñino, K. Beyer, M. Paré-Curell, A. Massuet, L. Ispierto-González (Badalona, Spain)

    Objective: We describe the clinical, radiological and neuropathological phenotype of a patient carrying a novel variant in the CSF1R gene. Background: Hereditary diffuse leukoencephalopathy with…
  • 2023 International Congress

    Early-onset cortico-basal degeneration (CBD) due to a c.2092G>A MAPT mutation

    M. Mata Alvarez-Santullano, L. Lopez-Manzanares, J. Lopez-Lozano, N. Villares, C. Magdaleno, C. Dela Torre (Madrid, Spain)

    Objective: To describe a patient with early-onset atypical parkinsonism that evolved to a classic CBD without dementia, associated to a c.2092G>A MAPT mutation Background: Although…
  • 2023 International Congress

    p.Gln257Profs*27 mutation in progranulin gene in a patient with corticobasal syndrome – the importance of family history

    S. Marques, A. Ferreira, M. Lopes, R. Maré, M. Rodrigues (Braga, Portugal)

    Objective: To report a case of a family with a mutation in progranulin gene manifesting as corticobasal syndrome, frontotemporal dementia and parkinson's disease. Background: Corticobasal syndrome (CBS) is mostly…
  • 2022 International Congress

    Asymmetric midbrain atrophy in a patient with progranulin-related FTLD

    A. Ameri, A. Mahajan, M. Rosenbaum, L. Verhagen Metman (Chicago, USA)

    Objective: We describe an atypical imaging finding in a patient with corticobasal syndrome (CBS) and a genetic diagnosis of frontotemporal lobar dementia (FTLD) associated with…
  • MDS Virtual Congress 2021

    New presenilin-1 missense variant (p.Pro88Arg) characterized by initial progressive supranuclear palsy like phenotype.

    Q. Thomas, S. Nambot, C. Thauvin-Robinet, C. Philippe, Y. Bejot, G. Dupont (Dijon, France)

    Objective: To report a new presenilin-1 (PSEN 1) missense variant (p.Pro88Arg) characterized by initial Progressive Supranuclear Palsy (PSP) like phenotype. Background: Pathogenic variants in the PSEN1gene…
  • 2019 International Congress

    An adult type Niemann-Pick disease type C family: Huntington’s disease-like expression

    I. Toyoshima, F. Takeda, C. Wada (Yurihonjo, Japan)

    Objective: We present a family with Niemann-Pick disease type C (NPC) expressing Huntington's disease-like involuntary movements. The process for the diagnosis may be a good…
  • 2019 International Congress

    A novel intronic variant in MAPT causes FTLD-parkinsonism: Implications for regulatory mechanism of MAPT pre-mRNA splicing

    P. Gonzalez-Latapi, B. Bustos, D. Larson, L. Kinsley, N. Siddique, T. Siddique, T. Simuni, E. Bigio, S. Lubbe, R. de Silva, D. Krainc, N. Mencacci (Chicago, IL, USA)

    Objective: To report the identification of a novel intronic variant in MAPT in a patient with familial parkinsonism-frontotemporal lobar degeneration (FTLD). Background: MAPT mutations are…
  • 2019 International Congress

    The potential modifier effect of C9orf72 DNA methylation in C9ORF72 carriers

    JM. Laffita-Mesa, CH. Kreidy, M. Paucar, P. Svenningsson (Stockholm, Sweden)

    Objective: To develop molecular assays for determining the influence of hypermethylation on age of onset for C9ORF72 carriers. Background: Hexanucleotide repeats of GGGGCC in C9ORF72 is…
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