MDS Abstracts

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

MENU 
  • Home
  • Meetings Archive
    • 2023 International Congress
    • 2022 International Congress
    • MDS Virtual Congress 2021
    • MDS Virtual Congress 2020
    • 2019 International Congress
    • 2018 International Congress
    • 2017 International Congress
    • 2016 International Congress
  • Keyword Index
  • Resources
  • Advanced Search

Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism

H. Hanssen, J. Dy, J. Tantianpact, M. Heldmann, H. Manalo, C. Klein, A. Westenberger, J. Oropilla, C. Diesta, N. Brüggemann (Lübeck, Germany)

Meeting: 2023 International Congress

Abstract Number: 1033

Keywords: Dystonia: Genetics, Striatum

Category: Genetics (Non-PD)

Objective: To determine whether structural brain changes are present in female carriers (MC) of the TAF1 pathogenic change causing X-linked dystonia-parkinsonism (XDP).

Background: XDP is an X-linked hereditary neurodegenerative disease characterized by progressive adult-onset dystonia accompanied by parkinsonism. Male patients with manifest but also prodromal XDP show striatal and pallidal pathology and, in addition, structural changes of the cerebellum. In male prodromal MC, the predicted age at onset of motor symptoms can be estimated by combining genetic modifiers, including a hexanucleotide repeat within the (retrotransposon) mutation. Although the mode of inheritance is X-chromosomal, XDP has occasionally been observed in female MCs indicative of neurodegeneration.

Method: High-resolution T1-weighted images were acquired at 1.5T in 35 female MC without a diagnosis of a movement disorder and 44 female healthy controls not carrying the mutation (HC). Voxel-based morphometry was performedusing the CAT toolbox in SPM12. The online tool volbrain (https://volbrain.upv.es) was used for subcortical volumetry. The hypothesized age of motor manifestation derived from male carriers was calculated using the previously published modifiers.

Results: No women had a previous diagnosis of a movement disorder. Voxel-based morphometry revealed atrophy of the striatum and hypertrophy in the medial parts of the cerebellum in MC (Fig.1). Accordingly, volumes of the caudate (F(1,79)=46.7, -18.5%), putamen (F(1,79)=65.0, -19.6%), and pallidum (F(1,79)=29.5, -18.4%) were reduced in MC compared to HC (all p <0.001, Fig.2). Striatal atrophy as well as the volume of the caudate and the putamen correlated with age and with time from putative onset in MC (rho = -0.7162, p < 0.0001). In contrast, there was no correlation between striatal volume with age in HC.

Conclusion: Our findings suggest significant striatal neurodegeneration in female carriers of the underlying mutation in the TAF1gene despite X-chromosomal mode of inheritance. Future studies should therefore focus on potential subtle motor and non-motor phenotypes in female carriers to reveal the entire clinical spectrum of neurodegeneration in XDP.

Fig 1

Fig 2

To cite this abstract in AMA style:

H. Hanssen, J. Dy, J. Tantianpact, M. Heldmann, H. Manalo, C. Klein, A. Westenberger, J. Oropilla, C. Diesta, N. Brüggemann. Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism [abstract]. Mov Disord. 2023; 38 (suppl 1). https://www.mdsabstracts.org/abstract/striatal-neurodegeneration-in-female-carriers-of-the-taf1-mutation-causing-x-linked-dystonia-parkinsonism/. Accessed September 28, 2023.
  • Tweet
  • Email
  • Print

« Back to 2023 International Congress

MDS Abstracts - https://www.mdsabstracts.org/abstract/striatal-neurodegeneration-in-female-carriers-of-the-taf1-mutation-causing-x-linked-dystonia-parkinsonism/

Most Viewed Abstracts

  • This Week
  • This Month
  • All Time
  • Welcome to the MDS Abstracts Site
  • Patients with Essential Tremor Live Longer than their Relatives
  • Increased Risks of Botulinum Toxin Injection in Patients with Hypermobility Ehlers Danlos Syndrome: A Case Series
  • Advanced Search
  • To be or not to bupropion: a drug-induced parkinsonism?
  • Welcome to the MDS Abstracts Site
  • Advanced Search
  • #23972 (not found)
  • Increased Risks of Botulinum Toxin Injection in Patients with Hypermobility Ehlers Danlos Syndrome: A Case Series
  • Patients with Essential Tremor Live Longer than their Relatives
  • Effect of marijuana on Essential Tremor: A case report
  • Increased Risks of Botulinum Toxin Injection in Patients with Hypermobility Ehlers Danlos Syndrome: A Case Series
  • Estimation of the 2020 Global Population of Parkinson’s Disease (PD)
  • Insulin dependent diabetes and hand tremor
  • Patients with Essential Tremor Live Longer than their Relatives
  • Help & Support
  • About Us
  • Cookies & Privacy
  • Wiley Job Network
  • Terms & Conditions
  • Advertisers & Agents
Copyright © 2023 International Parkinson and Movement Disorder Society. All Rights Reserved.
Wiley