Chromosomal Microarray Analysis for genetic evaluation of dystonia
Objective: To identify copy number variants (CNVs) associated with isolated or combined dystonia in Indian patients using chromosomal microarray analysis (CMA). Background: Chromosomal aberrations, especially…The Pistol Sign
Objective: To describe a specific dystonic feature associated with corticobasal degeneration(CBD). Background: Dystonia is common in atypical parkinsonian disorders such as multiple system atrophy, progressive…Generalized dystonia and spasticity: The fault in the mitochondria
Objective: To analyze the pattern of movement disorder in a child with mitochondrial respiratory chain disorder Background: Secondary movement disorders are often a clue to…Custom-made Application Interface using Wacom® Tablet for Assessment of Writer’s Cramp
Objective: To evaluate a custom designed software platform to digitise handwriting data in writers cramp and normal controls. Background: Focal task specific dystonia occurring while…Hemi-dystonia secondary to encephalitis and its response to staged pallidotomy
Objective: Reporting a case of hemi-dystonia (with involvement of trunk) secondary to encephalitis and its response to staged bilateral pallidotomy. Background: In the Axis 1…Social cognition in cervical dystonia: an fMRI study
Objective: Study functional changes within a network that mediates recognition of facial expressions in patients with cervical dystonia by MRI. Background: Cervical dystonia (CD) is…Cervical dystonia with early onset as initial manifestation of adult-onset Huntington’s disease
Objective: To describe a rare case of adult-onset HD that presented with early-onset cervical dystonia as the only and prominent symptom. Background: Except for chorea,…Voice- tremor in a patient with positive VPS 16 nonsense mutation: Expanding the phenotype
Objective: Reporting a case of voice-tremor in a patient with heterozygous non-sense variation in exon 16 of VPS 16 gene Background: Dystonia-30 is caused by…Pain and quality of life in cervical dystonia
Objective: To evaluate different aspects of quality of life (QoL) and pain prevalence, characteristics and influencing factors in patients with cervical dystonia (CD) before and…Case report of atypical PKAN expressed in late sixth-decade
Objective: We report a case of atypical PKAN expressed in late adulthood with a typical radiologic finding and genetic confirmation. Background: Pantothenate-kinase-associated neurodegeneration (PKAN) is…
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