Oct 2026· Annals of Clinical and Translational Neurology· 0 citations· 11 references
Medicine
TL;DR
This case further supports generalized dystonia as a recognizable manifestation of TCF20‐related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.
Abstract
ABSTRACT TCF20 has been implicated in developmental delay and intellectual disability, with dystonia reported less frequently. We describe a woman in her early twenties with childhood‐onset learning difficulties, progressive dysarthria, tremor, and generalized dystonia with marked cervical predominance, associated with a de novo TCF20 frameshift variant identified by whole genome sequencing. Quantitative brain MRI demonstrated numerically increased globus pallidus susceptibility and reduced volume compared with controls, without clear evidence of iron accumulation. This case further supports generalized dystonia as a recognizable manifestation of TCF20‐related disorders and suggests a possible link between TCF20 dysfunction and globus pallidus involvement in dystonia pathophysiology.
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 is reported, highlighting the value of retrospective genetic phenotyping and next-generation sequencing in adults with long-standing neurodevelopmental diagnoses.
M. J. Löw, Felix Bernsdorff, Christiane Weinrich et al.· Tremor and Other Hyperkineti...· 0 citations
Increasing evidence suggests that ATXN2-related disorders represent a clinical spectrum with variable presentations. We report a 70-year-old Chinese man carrying an ATXN2 allele with 34 CAG repeats (20/34 repeats). Cerebellar atrophy was incidentally noted on magnetic resonance imaging (MRI) more than ten years before...
Xin Huang, Yan Ma, Xin-Ran Ma et al.· Neurological Sciences· 0 citations
A Turkish family with a novel TUBB4A nucleotide variant with late-onset spasticity, tremor and mild frontal executive dysfunction is characterized, suggesting distributed structural abnormalities despite relatively mild clinical expression.
E. Hacılar, B. Samancı, U. Ay et al.· Neurogenetics· 0 citations
The potential role of PTEN in the pathogenesis of parkinsonism is discussed, and the spectrum of reported neurological features of PHTS is expanded to include hitherto unreported levodopa-responsive parkinsonism.
Sacha E. Gandhi, R. Siripurapu, Audrey Smith et al.· Movement Disorders Clinical...· 0 citations
A patient with a TUBA4A pathogenic variant with adulthood‐onset genetic myasthenic syndrome accompanied by myopathy and infertility is described to highlight the neuromuscular junction defect as the main feature of the patient's phenotype.
Margherita Milone, Stefan Nicolau, Zhiyv Niu et al.· European Journal of Neurolog...· 0 citations
Mitochondrial diseases exhibit heterogeneous pathophysiologies and phenotypes that, depending on severity, may substantially impair health, development, and life quality. This heterogeneity makes accurate disease-speci fi c treatment indispensable. This applies in particular to MEGDEL syndrome (associated with mutations...
Philipp Köberle, F. Lange, Ghadir Abbas et al.· Movement Disorders Clinical...· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
