Genetic testing in pediatric dystonia and influence of clinical factors on diagnostic yield
Objective: To identify the yield of genetic testing in suspected genetically determined pediatric dystonia. Identify differences in clinical factors among patients with confirmatory and non-confirmatory…Loss‐of‐function mutations in NR4A2 cause dopa‐responsive dystonia-parkinsonism
Objective: To report two patients with early-onset dystonia-parkinsonism as a result of loss-of-function mutations in nuclear receptor subfamily 4 group A member 2 (NR4A2). Background:…A Novel Variant of TUBB4A Dystonia (DYT4): A Case Report
Objective: To describe the clinical presentation of a case of TUBB4A dystonia with a novel genetic variant Background: A missense variant at Arg2Gly in the…Bilateral GPi DBS for the treatment of severe generalized genetic dystonia caused by KMT2B mutation (DYT-28)
Objective: . Background: KMT2B-related dystonia (DYT-28) is a complex childhood-onset movement disorder, characterized by a limb onset dystonia progressing to generalized dystonia with cranio-cervical involvement…Phenotypic heterogeneity in Chinese dystonia patients with KMT2B variants
Objective: Our study is to summarize genotype-phenotype features with KMT2B-related dystonia in China. Background: KMT2B-related dystonia is a recently discovered childhood onset movement disorder. It…No pathogenic mutations in HPCA in Chinese dystonia patients
Objective: To explore the frequency and spectrum of HPCA mutation in Chinese subjects with dystonia. Background: Dystonia is known as a group of clinically and etiologically…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…
- « Previous Page
- 1
- …
- 12
- 13
- 14
- 15
- 16
- …
- 26
- Next Page »