MOVEMENT DISORDERS IN CHILDREN WITH ATP1A3 GENE MUTATIONS. A SERIES OF CHILEAN PATIENTS
Objective: Describe the most frequent abnormal movements, their association with other symptoms, and the response to treatment in 4 children with ATP1A3 gene mutations. Background:…A novel variant [c.2974G>A; (p.Asp992Asp)] of DYT/PARK-ATP1A3
Objective: To describe the clinical presentation of a novel likely pathogenic variant in ATP1A3. Background: Rapid onset dystonia-parkinsonism is related to mutations in ATP1A3 gene.…Childhood-Onset Hemidystonia: A Transportophaty related to SLC6A3 missense mutation
Objective: To present the case of a childhood-onset hemidystonia carrying a homozygous SLC6A3 missense mutation. Background: Dystonia is a movement disorder characterized by sustained or…A New Complex dystonic presentation of a rare gene – CACNA1B and its response to Levodopa
Objective: We report a case of complex dystonia with the rare gene- CACNA1B. Background: CACNA1B gene has previously been reported as the cause of myoclonus-…Late-Onset Dopa-Responsive Dystonia: A Case Report
Objective: To present a rare cause of treatable dystonia with onset during adulthood. Background: L-Dopa-responsive dystonia is an inherited disorder characterized by early-onset dystonia affecting…De-novo ß-actin mutation as a cause of seemingly sporadic dystonia-deafness syndrome responsive to deep-brain stimulation
Objective: To elucidate the cause of dystonia and deafness in a 37-year-old woman and to evaluate the response to deep brain stimulation (DBS). Background: Dystonia-deafness…Movement Disorders in the Plain People
Objective: Genomic discovery often occurs in large institutions, but the contribution of small, rural genetics clinics must not be overlooked. While rare, these rural genetics…Movement disorders associated with expansions and intermediate repeats in the C9orf72 gene
Objective: This work sought to investigate the frequency and characteristics of movement disorders (MD) associated with repeat expansions or intermediate repeats in the C9orf72 gene.…First Scientific Description of the Hepato-Lenticular Degeneration
Objective: Hepato-Lenticular Degeneration (HLD) first described by German pathologist Friedrich Theodor von Frerichs in 1854, but in the West it called Wilson's Disease. In Russia…Concurrent SCA3 and SCA10 in a young man with ataxia and prominent dystonia
Objective: To describe a case of a man with pathogenic repeat expansions in both ATXN3 and ATXN10. Background: SCA3 is caused by abnormal polyglutamine repeat…
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