Introduction: Cervical dystonia is the most frequent form of isolated focal dystonia. It is often associated with a dysfunction in brain networks, mostly affecting the basal ganglia, the cerebellum, and the somatosensory cortex. However, it is unclear if such a dysfunction is somato-specific to the brain areas containing the representation of the affected body part, and may thereby account for the focal expression of cervical dystonia. In this study, we investigated resting state functional connectivity in the areas within the motor cortex and the cerebellum containing affected and non-affected body representations in cervical dystonia patients.
Methods: Eighteen patients affected by cervical dystonia and 21 healthy controls had resting state fMRI. The functional connectivity between the motor cortex and the cerebellum, as well as their corresponding measures of gray matter volume and cortical thickness, were compared between groups. We performed seed-based analyses, selecting the different body representation areas in the precentral gyrus as seed regions, and all cerebellar areas as target regions.
Results: Compared to controls, patients exhibited increased functional connectivity between the bilateral trunk representation area of the motor cortex and the cerebellar vermis 6 and 7b, respectively. These functional abnormalities did not correlate with structural changes or symptom severity.
Conclusions: Our findings indicate that the abnormal function of the motor network is somato-specific to the areas encompassing the neck representation. Functional abnormalities in discrete relevant areas of the motor network could thus contribute to the focal expression of CD.
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http://dx.doi.org/10.1016/j.parkreldis.2021.11.034 | DOI Listing |
J Voice
January 2025
Department of Otolaryngology-Head and Neck Surgery, UCSF Voice and Swallowing Center, UCSF School of Medicine, San Francisco, CA. Electronic address:
Background: Laryngeal respiratory dystonia (LRD) is diagnosed based on clinical presentation, patient history, and physical examination. Key indicators include dyspnea, desynchronized breathing patterns, and laryngoscopic findings that reveal vocal fold adduction during inspiration. Treatment for LRD remains controversial and often yields limited effectiveness.
View Article and Find Full Text PDFProc 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 PDFBMJ Case Rep
January 2025
Neurology, Joondalup Health Campus, Joondalup, Western Australia, Australia.
Anti-dipeptidyl-peptidase-like protein 6 antibody-mediated disease is a rare autoimmune encephalitis typically presenting with diarrhoea and/or weight loss, central nervous system hyperexcitability and cognitive dysfunction. We present a case of a young woman with 10 days of diplopia and unsteadiness in the context of dysthymia and significant weight loss over 2 months. Initial examination demonstrated mixed dysconjugate nystagmus and ataxic gait.
View Article and Find Full Text PDFCureus
December 2024
Department of Orthopedic Surgery, Fujimi-Kogen Hospital, Fujimi-Kogen Medical Center, Fujimi, JPN.
This study reports on an extremely rare case of non-traumatic atlantoaxial rotatory fixation (AARF) in an adult. Although there are numerous reports on traumatic AARF in adults, those on non-traumatic AARFs are limited. We present the case of a 25-year-old woman who developed neck pain with a limited range of motion (ROM) that began upon waking without any particular inducement.
View Article and Find Full Text PDFJ AAPOS
December 2024
Department of Ophthalmology, Boston Children's Hospital, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts; Picower Institute for Learning and Memory, Massachusetts Institute of Technology, Cambridge, Massachusetts. Electronic address:
Ocular torticollis is traditionally attributed to eye misalignment, nystagmus, ptosis, or refractive error. We present 3 pediatric cases of acquired torticollis caused by a foreign body beneath the upper eyelid. The head posturing presumably developed to minimize contact of the foreign body with the corneal surface and mitigate ocular discomfort.
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