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tremor ataxia syndrome (FXTAS) is the main…X-chromosomal Dystonia-Parkinsonism: a systematic review of published and unpublished clinical data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…Dystonia ataxia (DYTCA) syndrome with prominent handwriting deterioration associated with ADCK3 mutation: two new cases and an overview of the literature
Objective: To report two new patients with ADCK3 mutation presenting with writing deterioration as first sign of DYTCA syndrome. To provide an overview of clinical…Bilateral subthalamic deep brain stimulation combined with thalamotomy for PRRT2-associated generalized dystonia: A case report
Objective: To investigate the efficacy of deep brain stimulation (DBS) and thalamotomy on symptoms improvement in a case of PRRT2-associated childhood-onset generalized dystonia. This would…Globus pallidus deep brain stimulation (GPi-DBS) in one patient with complex early-onset dystonia and KMT2B mutation: A case report
Objective: To assess long term results of GPi-DBS in one patient with generalized dystonia with KMT2B mutation. Background: Mutations in heterozygosis of the KMT2B gene,…
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