Background: Adult-onset dystonia can also spread to other parts of the body, although it is not as common as childhood-onset dystonia.
Objective: Our study aimed to examine the clinical factors determining spreading patterns in all adult-onset dystonia types.
Methods: We retrospectively analyzed the medical records of patients with a diagnosis of isolated dystonia followed longitudinally at our center. We included patients reporting symptom onset after 18 years. We then compared the clinical factors between groups with and without spreading.
Results: Among 434 patients (396 focal, 29 segmental, and nine generalized onset dystonia. mean follow-up of 8.6 ± 7.8 years), 48 (11.1%) experienced spread of dystonia, with 37 progressing from focal to segmental, two from focal to generalized, two from segmental to generalized, and seven from focal to segmental to generalized dystonia. Blepharospasm was the most common focal dystonia noted to spread, followed by oromandibular dystonia, cervical dystonia, laryngeal dystonia, and upper extremity dystonia, in decreasing order. A spreading pattern was observed in approximately one in 10 dystonia patients, and the spreading was more frequent in the segmental dystonia group. While there was no difference between the spreading groups regarding sensory tricks, tremor, and gender, family history was more common in the non-spreading group (p = 0.023). Older age at onset was independently associated with increased odds of spreading (hazards ratio: 1.054, p < 0.001, B = 0.053).
Conclusion: Although risk factors for spread are variable, the underlying mechanisms are not fully known. Genetic factors may be possibly related to the spread, and future studies are needed on this subject.
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http://dx.doi.org/10.5334/tohm.952 | DOI Listing |
Neurocrit Care
January 2025
Department of Neurology, Mayo Clinic Rochester, Rochester, MN, USA.
Background: Neuroleptic malignant syndrome (NMS) is a psychiatric-neurologic emergency that may require intensive care management. There is a paucity of information about NMS as a critical illness. We reviewed the Mayo Clinic experience.
View Article and Find Full Text PDFJ Neurol
January 2025
Department of Neurology and Institute of Neurology, Ruijin Hospital, Affiliated with Shanghai Jiao Tong University School of Medicine, 197 Ruijin Er Road, Shanghai, 200025, China.
Background: Bilateral deep brain stimulation (DBS) of subthalamic nucleus (STN) has demonstrated efficacy for ameliorating medication-refractory isolated dystonia. Nonetheless, the paucity of evidence regarding its long-term impact on quality-of-life (QoL) necessitates further investigation.
Objectives: This study aimed to elucidate the longitudinal effects of chronic STN stimulation on QoL in patients suffering from isolated dystonia.
BMC Med
January 2025
Physiological Institute, University of Regensburg, University Street 31, 93053, Regensburg, Germany.
Background: Dystonia is a common neurological hyperkinetic movement disorder that can be caused by mutations in anoctamin 3 (ANO3, TMEM16C), a phospholipid scramblase and ion channel. We previously reported patients that were heterozygous for the ANO3 variants S651N, V561L, A599D and S651N, which cause dystonia by unknown mechanisms.
Methods: We applied electrophysiology, Ca measurements and cell biological methods to analyze the molecular mechanisms that lead to aberrant intracellular Ca signals and defective activation of K channels in patients heterozygous for the ANO3 variants.
Proc Natl Acad Sci U S A
January 2025
Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115.
Deep brain stimulation is an efficacious treatment for dystonia. While the internal pallidum serves as the primary target, recently, stimulation of the subthalamic nucleus (STN) has been investigated. However, optimal targeting within this structure and its surroundings have not been studied in depth.
View Article and Find Full Text PDFNeuromodulation
January 2025
Department of Psychiatry and Behavioral Sciences, Division of Child and Adolescent Psychiatry, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, CA, USA.
Objectives: Biphasic sinusoidal repetitive transcranial magnetic stimulation (rTMS) is a noninvasive brain stimulation treatment that has been approved by the US Food and Drug Administration for treatment-resistant depression (TRD). Recent advances suggest that standard rTMS may be improved by altering the pulse shape; however, there is a paucity of research investigating pulse shape, owing primarily to the technologic limitations of currently available devices. This pilot study examined the feasibility, tolerability, and preliminary efficacy of biphasic and monophasic rectangular rTMS for TRD.
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