News

May
15th
DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.
Camargo CH, Camargos ST, Raskin S, Cardoso FE, Teive HA - May 15, 2014

BACKGROUND: Several genes associated with dystonia have been identified. A mutation in one of these, THAP1 (DYT6), is linked to isolated dystonia. The aim of this study was to assess the prevalence of THAP1 gene mutations and the clinical characteristics of patients with these mutations in a clinical population in Brazil.
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May
15th
Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia.
Fossbakk A, Kleppe R, Knappskog PM, Martinez A, Haavik J. - May 15, 2014

Congenital tyrosine hydroxylase deficiency (THD) is found in autosomal-recessive Dopa-responsive dystonia and related neurological syndromes. The clinical manifestations of THD are variable, ranging from early-onset lethal disease to mild Parkinson disease-like symptoms appearing in adolescence. Until 2014, approximately 70 THD patients with a total of 40 different disease-related missense mutations, five nonsense mutations, and three mutations in the promoter region of the tyrosine hydroxylase (TH) gene have been reported.
- Read more about Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia.
May
1st
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, .. - May 1, 2014

Genetic research has shown that mutations that modify the protein-coding sequence of ATP1A3, the gene encoding the α3 subunit of Na(+)/K(+)-ATPase, cause both rapid-onset dystonia parkinsonism and alternating hemiplegia of childhood. These discoveries link two clinically distinct neurological diseases to the same gene, however, ATP1A3 mutations are, with one exception, disease-specific.
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April
22nd
De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a serbian patient.
Dobričić V, Kresojević N, Westenberger A, Svetel M, Tomić A, Ralić V, Petrović I, Lukić MJ, Lohmann K, Novaković I, et al. - April 22, 2014

BACKGROUND: Mutations in GNAL (DYT25) have recently been established as the first confirmed cause of focal or segmental adult-onset dystonia. Mutation carriers show craniocervical involvement; however, the GNAL mutational and phenotypic spectrum remain to be further characterized, and guidelines for diagnostic testing need to be established. METHODS: The authors used Sanger sequencing to test for changes in the GNAL coding or splice-site regions in 236 Serbian patients suffering from isolated dystonia with craniocervical involvement.
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April
22nd
Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcayji-hes mice.
Luna-Cancalon K, Sikora KM, Pappas SS, Singh V, Wulff H, Paulson HL, Burmeister M, Shakkottai VG. - April 22, 2014

Recent evidence suggests that dystonia, a movement disorder characterized by sustained involuntary muscle contractions, can be associated with cerebellar abnormalities. The basis for how functional changes in the cerebellum can cause dystonia is poorly understood. Here we identify alterations in physiology in Atcayji-hes mice which in addition to ataxia, have an abnormal gait with hind limb extension and toe walking, reminiscent of human dystonic gait.
- Read more about Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcayji-hes mice.

News

DYT6 in Brazil: Genetic Assessment and Clinical Characteristics of Patients.

Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia.

Distinct neurological disorders with ATP1A3 mutations.

De novo mutation in the GNAL gene causing seemingly sporadic dystonia in a serbian patient.

Alterations in cerebellar physiology are associated with a stiff-legged gait in Atcayji-hes mice.

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