Trisomy 8 Mosaicism and dystonia: a THAP1 overdose?
Objective: We report a case of Trisomy 8 Mosaicism (T8M, Warkany Syndrome) with craniocervical and hand dystonia, an hitherto unreported disease association. Background: T8M is…Focal dystonia as an early symptom of CACNA1A mutation: case report and literature review.
Objective: We describe two cases, a father-daughter pair, of CACNA1A mutation with task specific dystonia as an early feature. The father otherwise had a phenotype…Intracranial calcifications and dystonia associated with a novel deletion encompassing SLC20A2 and THAP1
Objective: Describe a case of dystonia and intracranial calcifications associated with a deletion within 8p11.21 Background: Multiple genes located within chromosome 8p11.21 are associated with…Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC): a Mexican case report.
Objective: To report the first case in Mexico of a patient with generalized dystonia and self-mutilation of the tongue with clinical and radiological diagnosis of…Association analysis of single nucleotide polymorphisms near the DYT3 locus to dystonic symptoms in X-linked dystonia-parkinsonism
Objective: We aimed to elucidatewhether single nucleotide polymorphisms within the XDP locus affect the phenotypic expression of XDP. Background: X-linked Dystonia-Parkinsonism (XDP, DYT3, Lubag Disease,…Characterization of GNB1 mutations as a cause of global developmental delay in combination with dystonia, ataxia, or chorea in children
Objective: To investigate the phenotypic and genotypic spectrum of GNB1 (guanine nucleotide-binding protein, beta 1) mutations and to functionally evaluate their pathogenicity. Background: Global developmental…Variations in ANO3 gene in patients with cervical dystonia
Objective: The aim of our study was to establish prevalence of variants in the gene for anoctamin 3 (ANO3) in a population of patients with…Haploinsufficiency of KMT2B causes myoclonus-dystonia with impaired psychomotor ability
Objective: To investigate the genetic defect in patients with early-onset dystonia and myoclonus accompanying various neurological features. Background: Unlike other Mendelian disorders, dystonia genetics has…DYT16/PRKRA founder mutation causes childhood-onset generalized dystonia in a family from southern Italy
Objective: To describe a family with three siblings affected by the combination of dystonia and parkinsonism, as a resulting phenotype of recessive PRKRA mutation. Background:…Novel THAP1 missense mutation leading to focal and segmental dystonia
Objective: We have identified a novel heterozygous missense mutation in THAP1 (DYT6 locus) in a patient suffering from craniocervical and upper limb dystonia. We describe…
- « Previous Page
- 1
- …
- 21
- 22
- 23
- 24
- 25
- 26
- Next Page »