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Toshitaka Kawarai, Ryoma Morigaki, Ryuji Kaji, Satoshi Goto
X-linked dystonia-parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or "Lubag" disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a transcriptional dysregulation syndrome with impaired expression of the TAF1 (TATA box-binding protein associated factor 1) gene, which is a critical component of the cellular transcription machinery...
June 26, 2017: Brain Sciences
Uwe Walter, Raymond Rosales, Alessandro Rocco, Ana Westenberger, Aloysius Domingo, Criscely L Go, Norbert Brüggemann, Christine Klein, Lillian V Lee, Dirk Dressler
INTRODUCTION: X-linked recessive dystonia-parkinsonism (XDP, DYT3) is highly prevalent in the Philippines and manifests with varying phenotype. We sought to evaluate the significance of transcranial brain sonography as a biomarker for parkinsonism-predominant phenotype. METHODS: 90 Filipino participants were enrolled into a cross-sectional study: 39 patients with XDP, 21 asymptomatic first-degree relatives of XDP patients, and 30 healthy control subjects. Echogenicity of the substantia nigra and the lenticular nuclei was digitally quantified...
April 2017: Parkinsonism & related Disorders
Aloysius Domingo, Ana Westenberger, Lillian V Lee, Ingrid Brænne, Tian Liu, Inga Vater, Raymond Rosales, Roland Dominic Jamora, Paul Matthew Pasco, Eva Maria Cutiongco-Dela Paz, Karen Freimann, Thomas Gpm Schmidt, Dirk Dressler, Frank J Kaiser, Lars Bertram, Jeanette Erdmann, Katja Lohmann, Christine Klein
X-linked recessive dystonia-parkinsonism is a rare movement disorder that is highly prevalent in Panay Island in the Philippines. Earlier studies identified seven different genetic alterations within a 427-kb disease locus on the X chromosome; however, the exact disease-causing variant among these is still not unequivocally determined. To further investigate the genetic cause of this disease, we sequenced all previously reported genetic alterations in 166 patients and 473 Filipino controls. Singly occurring variants in our ethnically matched controls would have allowed us to define these as polymorphisms, but none were found...
October 2015: European Journal of Human Genetics: EJHG
Raymond L Rosales
The clinical phenotype of X-Linked Dystonia Parkinsonism (XDP) is typically one that involves a Filipino adult male whose ancestry is mostly traced in the Philippine island of Panay. Dystonia usually starts focally in the lower limbs or oromandibular regions, then spreads to become generalized eventually. Parkinsonism sets in later into the disease and usually in combination with dystonia. /DYT3/ and /TAF1/ are the two genes associated with XDP. An SVA retrotransposon insertion in an intron of /TAF1/ may reduce neuron-specific expression of the /TAF1/ isoform in the caudate nucleus, and subsequently interfere with the transcription of many neuronal genes...
October 2010: Journal of Movement Disorders
Christine Klein
While Hermann Oppenheim probably described the first cases of genetic (DYT1) dystonia in 1911, the 'modern history' of dystonia genetics dates back to 1994 when mutations in the GTP cyclohydrolase I gene were discovered to cause dopa-responsive dystonia. Due to the advent of next-generation sequencing, the field of dystonia genetics has been evolving very rapidly over the past two years, resulting in the reporting of 'DYT1-25' and, for the first time, in the identification of genes associated with adult-onset focal/segmental dystonia...
January 2014: Parkinsonism & related Disorders
Francesca Morgante, Christine Klein
PURPOSE OF REVIEW: The purpose of this review is to provide an update on the classification, phenomenology, pathophysiology, and treatment of dystonia. RECENT FINDINGS: A revised definition based on the main phenomenologic features of dystonia has recently been developed in an expert consensus approach. Classification is based on two main axes: clinical features and etiology. Currently, genes have been reported for 14 types of monogenic isolated and combined dystonia...
October 2013: Continuum: Lifelong Learning in Neurology
Akash J Patel, Aliya I Sarwar, Joseph Jankovic, Ashwin Viswanathan
BACKGROUND: X-linked dystonia-parkinsonism (XDP) is a progressively debilitating movement disorder that begins with focal dystonia and eventually generalizes. It exclusively affects Filipino inhabitants of the island of Panay. We report a case of XDP successfully treated by deep brain stimulation (DBS) and review the literature. METHODS: A 36-year-old man with XDP failed medical management and underwent bilateral globus pallidus internus DBS. A search of the PubMed database was performed to identify all articles discussing DBS and XDP...
July 2014: World Neurosurgery
Katja Lohmann, Christine Klein
Although all forms of dystonia share the core clinical features of involuntary dystonic dyskinesia, there is not only marked phenotypic but also etiologic heterogeneity. Isolated dystonia can be caused by mutations in TOR1A (DYT1), TUBB4 (DYT4), THAP1 (DYT6), CIZ1 (DYT23), ANO3 (DYT24), and GNAL (DYT25). Combined dystonias (with parkinsonism or myoclonus) are further subdivided into persistent (TAF1 [DYT3], GCHI [DYT5], SGCE [DYT11], ATP1A3 [DYT12]), PRKRA (DYT16), and paroxysmal (MR-1 [DYT8], PRRT2 [DYT10], SLC2A1 [DYT18]...
June 15, 2013: Movement Disorders: Official Journal of the Movement Disorder Society
Thilo Herzfeld, Dagmar Nolte, Maria Grznarova, Andrea Hofmann, Joachim L Schultze, Ulrich Müller
X-chromosomal dystonia parkinsonism syndrome (XDP, 'lubag') is associated with sequence changes within the TAF1/DYT3 multiple transcript system. Although most sequence changes are intronic, one, disease-specific single-nucleotide change 3 (DSC3), is located within an exon (d4). Transcribed exon d4 occurs as part of multiple splice variants. These variants include exons d3 and d4 spliced to exons of TAF1, and an independent transcript composed of exons d2-d4. Location of DSC3 in exon d4 and utilization of this exon in multiple splice variants suggest an important role of DSC3 in the XDP pathogenesis...
March 1, 2013: Human Molecular Genetics
Diane Whitmer, Camille de Solages, Bruce C Hill, Hong Yu, Helen Bronte-Stewart
OBJECTIVES: 1) To characterize patterns of globus pallidus interna neural synchrony in patients with secondary dystonia; 2) to determine whether neural hypersynchrony in the globus pallidus externa (GPe) and interna (GPi) is attenuated during high frequency deep brain stimulation (HF DBS) in a patient with DYT3+ dystonia and in a patient with secondary dystonia due to childhood encephalitis. MATERIALS AND METHODS: We recorded local field potentials from the DBS lead in the GPi of four patients (seven hemispheres) with secondary dystonia and from one patient (two hemispheres) with primary DYT3+ dystonia...
May 2013: Neuromodulation: Journal of the International Neuromodulation Society
Tania Fuchs, Laurie J Ozelius
Dystonia is characterized by muscle contractions leading to abnormal postures with involuntary twisting and repetitive movements. Inherited dystonia designated by DYT locus symbols can be separated into three broad phenotypic categories: primary torsion dystonia (PTD), where dystonia is the only clinical sign (except for tremor) (DYT1, 2, 4, 6, 7, 13, 17, and 21); dystonia plus loci, where other phenotypes in addition to dystonia, including parkinsonism or myoclonus, are present (DYT3, 5/14, 11, 12, 15, and 16); and paroxysmal forms of dystonia/dyskinesia (DYT8, 9, 10, 18, 19, and 20)...
November 2011: Seminars in Neurology
Matthew J Barrett, Susan Bressman
Dystonia consists of involuntary repetitive twisting (torsion) or directional movements, sometimes leading to sustained postures. The movements are stereotyped and characterized by co-contraction of agonist and antagonist muscles. There is a broad clinical spectrum of dystonia which derives in part from the differential distribution of involvement. Dystonia may be localized, affecting a single body region, or generalized, affecting multiple extremities along with the trunk. Intermediate dystonic involvement can be described as segmental, designating two affected contiguous body regions, or multifocal, designating two or more noncontiguous affected body regions...
2011: International Review of Neurobiology
Arnaud Blanchard, Vuthy Ea, Agathe Roubertie, Mélanie Martin, Coline Coquart, Mireille Claustres, Christophe Béroud, Gwenaëlle Collod-Béroud
By family-based screening, first Fuchs and then many other authors showed that mutations in THAP1 (THAP [thanatos-associated protein] domain-containing, apoptosis-associated protein 1) account for a substantial proportion of familial, early-onset, nonfocal, primary dystonia cases (DYT6 dystonia). THAP1 is the first transcriptional factor involved in primary dystonia and the hypothesis of a transcriptional deregulation, which was primarily proposed for the X-linked dystonia-parkinsonism (DYT3 dystonia), provided thus a new way to investigate the possible mechanism underlying the development of dystonic movements...
November 2011: Human Mutation
W Sako, R Morigaki, R Kaji, I Tooyama, S Okita, K Kitazato, S Nagahiro, A M Graybiel, S Goto
The neuron-specific isoform of the TAF1 gene (N-TAF1) is thought to be involved in the pathogenesis of DYT3 dystonia, which leads to progressive neurodegeneration in the striatum. To determine the expression pattern of N-TAF1 transcripts, we developed a specific monoclonal antibody against the N-TAF1 protein. Here we show that in the rat brain, N-TAF1 protein appears as a nuclear protein within subsets of neurons in multiple brain regions. Of particular interest is that in the striatum, the nuclei possessing N-TAF1 protein are largely within medium spiny neurons, and they are distributed preferentially, though not exclusively, in the striosome compartment...
August 25, 2011: Neuroscience
Lillian V Lee, Corazon Rivera, Rosalia A Teleg, Marita B Dantes, Paul Matthew D Pasco, Roland Dominic G Jamora, Jose Arancillo, Rodelyn F Villareal-Jordan, Raymond L Rosales, Cynthia Demaisip, Elma Maranon, Olivia Peralta, Ruth Borres, Cirnueb Tolentino, Mercy Joyce Monding, Sonia Sarcia
Sex-linked dystonia parkinsonism (XDP, DYT3, "Lubag") is an adult-onset, progressive, debilitating movement disorder first described in Filipino males from Panay Islands in 1975. XDP manifests predominantly as torsion dystonia, later combined with or sometimes replaced with parkinsonism. Within the Island of Panay, the prevalence rate is highest in the province of Capiz, where 1:4000 men suffer from the disorder. There is a high degree of penetrance and generalization. While women often serve as carriers, XDP is not limited to men...
2011: International Journal of Neuroscience
Genko Oyama, Hubert H Fernandez, Kelly D Foote, Pam Zeilman, Nelson Hwynn, Charles E Jacobson, Irene A Malaty, Ramon L Rodriguez, Michael S Okun
BACKGROUND: X-linked dystonia-parkinsonism (XDP; DYT3; Lubag) is an adult-onset hereditary progressive dystonia/parkinsonism which is typically minimally responsive to pharmacological treatment. CASE REPORT: We report a 63- year-old man with a diagnosis of XDP who underwent bilateral globus pallidus internus deep brain stimulator (GPi-DBS) placement. His course initially began with right hand tremor and dystonia at age 57 and progressed to also include bradykinesia and rigidity...
2010: Stereotactic and Functional Neurosurgery
Susanne A Schneider, Kailash P Bhatia
The list of genetic causes of syndromes of dystonia parkinsonism grows constantly. As a consequence, the diagnosis becomes more and more challenging for the clinician. Here, we summarize the important causes of dystonia parkinsonism including autosomal-dominant, recessive, and x-linked forms. We cover dopa-responsive dystonia, Wilson's disease, Parkin-, PINK1-, and DJ-1-associated parkinsonism (PARK2, 6, and 7), x-linked dystonia-parkinsonism/Lubag (DYT3), rapid-onset dystonia-parkinsonism (DYT12) and DYT16 dystonia, the syndromes of Neurodegeneration with Brain Iron Accumulation (NBIA) including pantothenate kinase (PANK2)- and PLA2G6 (PARK14)-associated neurodegeneration, neuroferritinopathy, Kufor-Rakeb disease (PARK9) and the recently described SENDA syndrome; FBXO7-associated neurodegeneration (PARK15), autosomal-recessive spastic paraplegia with a thin corpus callosum (SPG11), and dystonia parkinsonism due to mutations in the SLC6A3 gene encoding the dopamine transporter...
November 2010: Current Neurology and Neuroscience Reports
Raoul Mazars, Anne Gonzalez-de-Peredo, Corinne Cayrol, Anne-Claire Lavigne, Jodi L Vogel, Nathalie Ortega, Chrystelle Lacroix, Violette Gautier, Gaelle Huet, Aurélie Ray, Bernard Monsarrat, Thomas M Kristie, Jean-Philippe Girard
THAP1 is a sequence-specific DNA binding factor that regulates cell proliferation through modulation of target genes such as the cell cycle-specific gene RRM1. Mutations in the THAP1 DNA binding domain, an atypical zinc finger (THAP-zf), have recently been found to cause DYT6 dystonia, a neurological disease characterized by twisting movements and abnormal postures. In this study, we report that THAP1 shares sequence characteristics, in vivo expression patterns and protein partners with THAP3, another THAP-zf protein...
April 30, 2010: Journal of Biological Chemistry
Ulrich Müller
Presently, 17 distinct monogenic primary dystonias referred to as dystonias 1- 4, 5a,b, 6-8, 10-13 and 15-18 (loci DYT 1-4, 5a,b, 6-8, 10-13, 15-18) have been recognized. Twelve forms are inherited as autosomal dominant, four as autosomal recessive and one as an X-linked recessive trait. Three additional autosomal dominant forms (DYT9, DYT19 and DYT20) might exist based on linkage mapping to regions apparently different from, yet in close proximity to or overlapping with the known loci DYT18, DYT10 and DYT8...
August 2009: Brain: a Journal of Neurology
Hao Deng, Wei-Dong Le, Joseph Jankovic
X-linked dystonia-parkinsonism (XDP, DYT3), endemic in the Philippine island of Panay, is characterized by the clinical onset with dystonia followed by parkinsonism. We found a 35-year-old American male patient, originally from Panay with typical XDP, has a 2-year history of parkinsonism, dystonia, and tremor. Ancestral DYT3 haplotype and disease-specific SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) retrotransposon insertion were identified in the DYT3 proband and two female unaffected family members...
December 26, 2008: Neuroscience Letters
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