Results 91 to 100 of about 123,648 (399)

Non-motor symptoms in patients with isolated dystonia: comparison between the age of onset

Dystonia
Background: The etiology and motor presentation differs between pediatric- and adult-onset dystonia. Emerging evidence has demonstrated that non-motor symptoms are frequent in adult dystonia, which affect the quality of life. By contrast, little is known
Yifan Zhou, Lingbing Wang, Hongxia Li, Yiwen Wu   +3 more
doaj   +1 more source

Case Report: Bilateral globus pallidum internus DBS for treating tremor and dystonia in spinocerebellar ataxia 17: a thirteen-year follow-up

Dystonia, 2023
Background: Spinocerebellar ataxia 17 (SCA17) is a rare autosomal dominant trinucleotide disorder. There are no effective therapies for addressing the clinical symptoms of SCA17.Case report: We describe a 46-year-old male who presented with symptoms of ...
Aparna Wagle Shukla, Shilpa Chitnis, Irene A. Malaty, Pam Zeilman   +3 more
doaj   +1 more source

Clinical and genetic analysis of 29 Brazilian patients with Huntington’s disease-like phenotype [PDF]

, 2011
Huntington’s disease (HD) is a neurodegenerative disorder characterized by chorea, behavioral disturbances and dementia, caused by a pathological expansion of the CAG trinucleotide in the HTT gene. Several patients have been recognized with the typical
Adrian Danek, Alexis Brice, Andrew SE, Bauer I, Bauer P, Bayreuther C, Benedikt Bader, Cellini E, Costa MC, Cécile Cazeneuve, Dobson-Stone C, Guilherme Riccioppo Rodrigues, Hirose G, Holmes SE, IBGE, Iscia Lopes-Cendes, Keckarević M, Krause A, Kremer B, Margolis RL, Martins S, McNeill A, Odile Russaouen, Rodrigues GR, Rodrigues GR, Rodriguez-Revenga L, Rosenblatt A, Ruth H. Walker, Santos C, Schmitz-Hübsch T, Stevanin G, Sułek-Piatkowska A, Teive HAG, Vitor Tumas, Vuillaume I, Wardle M, Warner JP, Wild EJ, Wilson Marques Jr.   +38 more
core   +3 more sources

The Dystonias [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1988
Dystonia is a difficult problem for both the clinician and the scientist. It is sufficiently common to be seen by almost all physicians, yet uncommon enough to prevent any physician from gaining broad experience in its diagnosis and treatment. Each case represents a difficult challenge even to the specialist.
E G, McGeer, P L, McGeer
openaire   +2 more sources

Patient‐Mounted Neuro Optical Coherence Tomography for Targeted Minimally Invasive Micro‐Resolution Volumetric Imaging in Brain In Vivo

Advanced Intelligent Systems, Volume 7, Issue 3, March 2025.
Herein, a patient‐mounted neuro optical coherence tomography system that integrates a 5 degrees‐of‐freedom skull‐mounted robot (Skullbot) with a 0.6 mm neuroendoscope for targeted, minimally invasive deep brain imaging, is developed. The system offers high‐resolution imaging with precise deployment, demonstrated through successful tumor imaging in a ...
Chao Xu, Zhiwei Fang, Huxin Gao, Tinghua Zhang, Tao Zhang, Peng Liu, Hongliang Ren, Wu Yuan   +7 more
wiley   +1 more source

Treating non-motor symptoms in dystonia: a systematic review

Dystonia
IntroductionDystonia is characterized by dysfunctional movements and postures and current treatments aim to reduce unwanted muscle activity. Dystonia also encompasses non-motor symptoms which are becoming increasingly recognized as important contributors
Dana Sugar, Sarah Pirio Richardson
doaj   +1 more source

Genome-Wide Association Study and Subsequent Exclusion of ATCAY as a Candidate Gene Involved in Equine Neuroaxonal Dystrophy Using Two Animal Models. [PDF]

, 2020
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (eNAD/EDM) is an inherited neurodegenerative disorder of unknown etiology. Clinical signs of neurological deficits develop within the first year of life in vitamin E (vitE) deficient ...
Dahlgren, Anna R, Esparza, Christina, Finno, Carrie J, Hales, Erin N, Miller, Andrew D, Peng, Sichong, Peterson, Janel M   +6 more
core   +1 more source

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Altered functional brain connectivity in Dyt1 knock-in mouse models

Dystonia
DYT1 dystonia is an early onset, generalized form of isolated dystonia characterized by sustained involuntary muscle co-contraction, leading to abnormal movements and postures.
R. Z. Adury, B. J. Wilkes, P. Girdhar, Y. Li, D. E. Vaillancourt, D. E. Vaillancourt, D. E. Vaillancourt   +6 more
doaj   +1 more source

How to use pen and paper tasks to aid tremor diagnosis in the clinic [PDF]

, 2017
When a patient presents with tremor, it can be useful to perform a few simple pen and paper tests. In this article, we explain how to maximise the value of handwriting and of drawing Archimedes spirals and straight lines as clinical assessments.
Deborah Thorpe, Jane Alty, Jeremy Cosgrove, Peter Kempster   +3 more
core   +2 more sources