A network imaging biomarker of X-linked dystonia-parkinsonism
Objective: To characterize a metabolic brain network associated with X-linked dystonia-parkinsonism (XDP). Background: X-linked dystonia-parkinsonism (XDP, DYT/PARK-TAF1, Lubag) is an X-linked recessive movement disorder characterized…Genetic spectrum of monogenic dystonia in Asian Indian patients
Objective: We aimed to identify potentially pathogenic genomic variations associated with dystonia in Asian Indian patients using whole exome sequencing. Background: Genomic variations associated with…The Pain in Dystonia Scale (PIDS): Development and Validation
Objective: To develop a new rating instrument for pain in AOID and validate it in the most common form of AOID, cervical dystonia (CD). Background:…Classifying pain in dystonia: a way to improve pain outcome measure in dystonia.
Objective: To classify and better understand pain in Dystonia. Background: Pain is an incapacitating non-motor symptom in dystonia. Evidence indicates that pain’s descending modulatory systems…Frequency of non- motor symptoms in dystonia patients
Objective: Our aim was to see a frequency of non-motor symptoms (NMS) in dystonia patients and influence on quality of life (QoL). Background: Non-motor problems…Awake Bruxism, a case series of an underrecognized disorder
Objective: We present a series of 3 cases with Awake Bruxism (AB) and frontal dysfunction. Background: AB is an infrequent, daytime form of bruxism, described…Short report in a dystonia cohort patients with implanted DBS systems
Objective: To review the use of bipolar and monopolar stimulation in a cohort of patients implanted DBS with Generalized Dystonia between 2012-2021 in Federal Center…Dopa-responsive Combined Dystonia Due to ATP1A3 Gene Variant
Objective: To describe a remarkable case of a patient with an atypical ATP1A3 phenotype with levodopa responsiveness, expanding our understanding of this gene mutation. Background: The ATP1A3-spectrum disorders…Reimplantation of the DBS to the patient with generalized dystonia.
Objective: To study the effect of reimplanted DBS after the infection and removing in the cases of 2 dystonia patients in Federal Center of Neurosurgery…Highlighting the dystonic phenotype related to GNAO1
Objective: To characterize the clinical and genetic features of patients with mild GNAO1-related phenotype with prominent movement disorders. Background: Most reported patients carrying GNAO1 mutations…
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