The Clinical, Molecular and Radiographic Spectrum of Adaptor Protein Complex 4-associated Hereditary Spastic Paraplegia (AP-4-HSP): Results from the AP-4-HSP International Registry
Objective: 1) To develop a registry and natural history study for AP-4-HSP; 2) to define core clinical and radiographic features; 3) to explore genotype-phenotype correlations.…Dystonia as a main clinical feature of AAMR with a novel GMPPA mutation:A case report
Objective: To extend the spectrum of clinical phenotype in the alacrima, achalasia and mental retardation syndrome(AAMR) by reporting a case. Background: AAMR is a newly…Structural network fingerprints for GPI-DBS in dystonia
Objective: Here, we investigate whether patients who respond to GPi-DBS present different brain global and local network organization and structural MRI fingerprints as derived from…Neuromuscular electrical stimulation for the treatment of jaw-closing dystonia
Objective: To measure whether neuromuscular electrical stimulation (NMES) increases jaw-opening distance and improves quality-of-life in jaw-closing dystonia patients. Background: An index case with progressive supranuclear…The Dutch Yips Study
Objective: To investigate the prevalence of the Yips in a well-defined group of golfers and to determine potential risk factors. Background: The Yips is a…Non-motor Symptoms in Hyperkinetic Movement Disorders
Objective: To evaluate the frequencies and clinical features of non-motor symptoms in several different hyperkinetic movement disorders and compare them with the healthy age- and…Different clinical entities of Segawa syndrome within a family
Objective: We report two cases of mother and daughter, both having different expressions of dystonic movements. Background: One of rare dystonic disorders is Segawa syndrome…Dystonic storm with a change of stimulation from constant voltage to constant current
Objective: Deep brain stimulation (DBS) is a FDA approved treatment for dystonia. Medtronic pulse generator (IPG), constant voltage (CV) stimulation and Boston Scientific generator, constant…Social Cognition, Neuropsychological functioning & Mood Disorder in Cervical Dystonia (CD)
Objective: This study investigated social cognition, neuropsychological functioning and mood disorder in CD. Background: CD is a hyperkinetic movement disorder of unknown cause. Although historically…A hexanucleotide repeat within a SINE-VNTR-Alu retrotransposon inserted in TAF1 modifies expressivity of X-linked dystonia-parkinsonism
Objective: To investigate the role of a hexanucleotide repeat within a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene in modifying expressivity of X-linked dystonia-parkinsonism…
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