Associations of Genetic, Epigenetic and Phenotypic Measures in the Dominican Republic PKAN Cohort
Objective: To explore relationships between demographic, clinical and behavioral phenotypes and underlying genetic and epigenetic features, utilizing a large cohort of PKAN patients. Background: PKAN…Unusual expression of fragile X premutation in a female patient: clinical and tractographic description
Objective: To present a case of dystonic head tremor in a female FMR1 premutation carrier. Background: Fragile X-associated tremor ataxia syndrome (FXTAS) is the main…X-chromosomal Dystonia-Parkinsonism: a systematic review of published and unpublished clinical data
Objective: To summarize and curate all published clinical data on x-chromosomal dystonia-parkinsonism (XDP) patients; identify relevant researches working on XDP and contact them for additional…Pregnancy and Delivery Complications in Women with Inherited Isolated Dystonia
Objective: To determine whether female mutation carriers of inherited dopa-responsive (DRD) and DYT/TOR1A genes had higher pregnancy and delivery complications than non-carriers Background: Women with…MDS Rare Movement Disorders Study Group Global Genetic Testing Survey: exploring the unmet needs
Objective: To better understand access to genetic testing at the international level. Background: One of the objectives of the Rare Diseases Study Group (RDSG) of…Novel familial HPCA mutation associated with autosomal recessive dystonia: Strengthening the role of HPCA in hereditary movement disorders.
Objective: The objective was to describe the genetic and clinical findings in a Turkish girl, her father and paternal uncle carrying a novel homozygous HPCA…Update from the international MDSGene initiative: International team science to perform genotype-phenotype correlations for hereditary movement disorders
Objective: The international MDSGene initiative aims to extract, summarize, curate, and illustrate data from movement disorder patients on the phenotypic and mutational level for which…A hexanucleotide repeat within a SINE-VNTR-Alu retrotransposon inserted in TAF1 modifies expressivity of X-linked dystonia-parkinsonism
Objective: To investigate the role of a hexanucleotide repeat within a SINE-VNTR-Alu (SVA) retrotransposon insertion in the TAF1 gene in modifying expressivity of X-linked dystonia-parkinsonism…Two heterozygous SNYE1 mutations presenting as spasmodic adductor dysphonia, task-specific jaw dystonia, generalized dystonia, and ataxia in a Jamaican man
Objective: Expanding the phenotype of SYNE1 mutations to include dystonia with ataxia. Background: In 2007 mutations in the SYNE1 gene were found to cause a…Phenotypic variability and extreme age of presentation of GCH1 gene mutation in dopa-responsive dystonia
Objective: To highlight the wide phenotypical variability among GCH1 gene mutation carriers and the importance of molecular work-up and establishing genotype-phenotype correlations in GCH1 related…
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