Journal Article

DZNE-2026-00934

http://join2-wiki.gsi.de/foswiki/pub/Main/Artwork/join2_logo100x88.png Expanding the TBL1XR1 Disease Spectrum: Generalized Dystonia Associated with a New Genetic Variant.

Löw, M. J. ; Bernsdorff, F. ; Weinrich, C. ; Biskup, S. ; Jüngling, J. ; van Riesen, C. (Last author)DZNE* ; Maass, F.

2026
Center for Digital Research and Scholarship New York, NY

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Please use a persistent id in citations: doi:10.5334/tohm.1242

Abstract: A growing number of identified genes increasingly reveal genetic overlaps between neurodevelopmental disorders and combined dystonia syndromes.We report a 61-year-old man with a neurodevelopmental disorder, mild ataxic signs and generalized dystonia who had been misdiagnosed with cerebral palsy for 40 years. Whole-exome sequencing identified a novel heterozygous pathogenic frameshift variant in TBL1XR1.TBL1XR1 variants are classically associated with Pierpont syndrome and autism spectrum disorder. Although movement disorders have been reported, this case suggests generalized dystonia as a possible additional manifestation. It highlights the value of retrospective genetic phenotyping and next-generation sequencing in adults with long-standing neurodevelopmental diagnoses.

Keyword(s): Humans (MeSH) ; Male (MeSH) ; Repressor Proteins: genetics (MeSH) ; Receptors, Cytoplasmic and Nuclear: genetics (MeSH) ; Middle Aged (MeSH) ; Peroxins: genetics (MeSH) ; Nuclear Proteins: genetics (MeSH) ; Dystonic Disorders: genetics (MeSH) ; Pierpont syndrome ; TBL1XR1 ; generalized dystonia ; TBL1XR1 protein, human ; Repressor Proteins ; Receptors, Cytoplasmic and Nuclear ; Peroxins ; Nuclear Proteins

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Contributing Institute(s):

1. Epigenetics and Systems Medicine in Neurodegenerative Diseases (AG Fischer)

Research Program(s):

1. 352 - Disease Mechanisms (POF4-352) (POF4-352)

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Database coverage:
; ; ; Article Processing Charges ; Clarivate Analytics Master Journal List ; DOAJ Seal ; Emerging Sources Citation Index ; Fees ; IF < 5 ; JCR ; SCOPUS ; Web of Science Core Collection

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