Targeted Next Generation Sequencing in Diagnosis of Dystonia Patients
Objective: To assess the effectiveness of the targeted next generation sequencing in dystonia patients in China. Background: Dystonia is a movement disorder with high clinical…Does ‘DYT23’ exist? Report of a second family with adult- onset focal dystonia and a CACNA1AB mutation – causative or coincidental?
Objective: To describe clinical and genetic findings in a patient with focal adult-onset primary cranial dystonia and chorea, and a mutation in CACNA1B (also referred…Dissecting molecular signatures of X-linked dystonia-parkinsonism (XDP) through integrative genomics studies
Objective: To determine the causal locus and functional mechanism associated with XDP using integrative genomics methods in patient-derived and genome-edited induced pluripotent stem cell (iPSC)…Mingo Supplement Trial: An Open-Labeled Randomized-Controlled Trial in X-linked Dystonia-Parkinsonism patients in the Province of Capiz, Philippines
Objective: To see whether increasing the caloric intake of patients by 480 calories per day using a locally sourced food supplement, Mingo, would raise the…Familial SCA2-parkinsonism presented as intractable oromandibular dystonia
Objective: We report a patient of spinocerebellar ataxia type 2(SCA2)-parkinsonism family who developed oromandibular dystonia as the chief presentation. Background: We previously described a Korean…Writing tremor: Should we look for a TOR1A mutation?
Objective: Writing tremor is not always a primary writing tremor but can undermask a dystonia gene-associated tremor. Background: Dystonia gene-associated tremor corresponds to isolated tremor…Novel TUBB4A variants in idiopathic dystonia
Objective: The aim of this study is to investigate TUBB4A variants in patients with idiopathic dystonia. Background: Mutations in TUBB4A, which encodes beta-tubulin 4A, were…Whole Exome Sequencing (WES) identifies a TUBB4A Mutation in two Saudi siblings with hypomyelinating leukodystrophy associated with atrophy of basal ganglia and cerebellum.
Objective: To highlight the presentation of TUBB4A mutations. Background: Hypomyelinating leukodystrophy, identified in 2002 by magnetic resonance imaging is a rare heterogeneous group of diseases…Spasmodic Dysphonia in Hereditary Spastic Paraplegia Type 7
Objective: To describe a case of spasmodic dysphonia associated with hereditary spastic paraplegia (HSP) type 7. Background: HSP is a heterogeneous group of inherited disorders…An unusual presentation of tyrosine hydroxylase deficiency
Objective: To discuss a case of tyrosine hydroxylase deficiency presenting with resolution of symptoms on levodopa except for a dynamic segmental dystonia Background: Dopa-responsive dystonia…
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