Clinical and genetic characterization of a large Dutch family with primary focal dystonia
We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were c...
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| Published in: | Movement disorders Vol. 23; no. 14; pp. 1998 - 2003 |
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| Abstract | We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society |
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| AbstractList | We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty-four individuals spanning three generations were examined by two movement-disorder neurologists. Two other movement-disorder neurologists evaluated the videos independently. Subjects were classified as affected, possibly affected, or not affected. A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio-cervical-brachial dystonia. Mean age at onset was 45.5 years (range, 39-56). Mean BFMDRS motor score was 4.4 (range, 1-8). Mean TWSTRS score (part I) was 11.3 (range, 8-23). Mutations in DYT1 gene and in the -sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. Abstract We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Subjects were classified as “affected,” “possibly affected,” or “not affected.” A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio‐cervical‐brachial dystonia. Mean age at onset was 45.5 years (range, 39–56). Mean BFMDRS motor score was 4.4 (range, 1–8). Mean TWSTRS score (part I) was 11.3 (range, 8–23). Mutations in DYT1 gene and in the ε‐sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. © 2008 Movement Disorder Society We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty-four individuals spanning three generations were examined by two movement-disorder neurologists. Two other movement-disorder neurologists evaluated the videos independently. Subjects were classified as "affected," "possibly affected," or "not affected." A diagnosis was defined if all the neurologists agreed on the definition. Eight definitely affected and four possibly affected subjects were detected. Clinical presentation consisted of mild cranio-cervical-brachial dystonia. Mean age at onset was 45.5 years (range, 39-56). Mean BFMDRS motor score was 4.4 (range, 1-8). Mean TWSTRS score (part I) was 11.3 (range, 8-23). Mutations in DYT1 gene and in the epsilon-sarcoglycan (SGCE) genes were not detected. We could not find linkage to the dominant DYT6, DYT7, DYT13, or the recessive DYT16 loci. The identification and accurate clinical evaluation of large dystonia families not linked to known genes is crucial for further advancement in molecular genetic characterization of focal dystonia. |
| Author | Baas, Frank Contarino, Maria Fiorella Mellema, Jonke Tijssen, Marina A.J. Ritz, Katja Speelman, Johannes D. Berger-Plantinga, Elles Foncke, Elisabeth M.J. |
| Author_xml | – sequence: 1 givenname: Maria Fiorella surname: Contarino fullname: Contarino, Maria Fiorella organization: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, Amsterdam, The Netherlands – sequence: 2 givenname: Elles surname: Berger-Plantinga fullname: Berger-Plantinga, Elles organization: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, Amsterdam, The Netherlands – sequence: 3 givenname: Elisabeth M.J. surname: Foncke fullname: Foncke, Elisabeth M.J. organization: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, Amsterdam, The Netherlands – sequence: 4 givenname: Katja surname: Ritz fullname: Ritz, Katja organization: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, Amsterdam, The Netherlands – sequence: 5 givenname: Jonke surname: Mellema fullname: Mellema, Jonke organization: Department of Neurology, Isala Klinieken, Locatie Weezenlanden, Zwolle, The Netherlands – sequence: 6 givenname: Frank surname: Baas fullname: Baas, Frank organization: Department of Neurogenetics, Academic Medical Centre, Amsterdam, The Netherlands – sequence: 7 givenname: Johannes D. surname: Speelman fullname: Speelman, Johannes D. organization: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, Amsterdam, The Netherlands – sequence: 8 givenname: Marina A.J. surname: Tijssen fullname: Tijssen, Marina A.J. email: m.a.tijssen@amc.uva.nl organization: Department of Neurology and Clinical Neurophysiology, Academic Medical Centre, Amsterdam, The Netherlands |
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| Cites_doi | 10.1212/WNL.50.5_Suppl_5.S1 10.1002/mds.10634 10.1002/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I 10.1002/mds.870080413 10.1002/ana.410420421 10.1016/S1474-4422(04)00907-X 10.1002/mds.870120625 10.1016/S1474-4422(08)70022-X 10.1002/1531-8257(199909)14:5<820::AID-MDS1015>3.0.CO;2-I 10.1086/302143 10.1002/ajmg.a.31887 10.1002/ana.73 10.1002/mds.10077 10.1002/mds.21056 10.1002/ana.410400421 |
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| Keywords | genetic Nervous system diseases focal dystonia geographical isolate Involuntary movement Cerebral disorder Striated muscle disease Central nervous system disease Dystonia Neurological disorder family Dutch Extrapyramidal syndrome |
| Language | English |
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| References_xml | – volume: 63 start-page: 1777 year: 1998 end-page: 1782 article-title: Search for a founder mutation in idiopathic focal dystonia from Northern Germany publication-title: Am J Hum Genet – volume: 19 start-page: 200 year: 2004 end-page: 206 article-title: Phenotypic characterization of DYT13 primary torsion dystonia publication-title: Mov Disord – volume: 40 start-page: 681 year: 1996 end-page: 684 article-title: Exclusion of the DYT1 locus in familial torticollis publication-title: Ann Neurol – volume: 78 start-page: 1 year: 1998 end-page: 10 article-title: Classification of dystonia publication-title: Adv Neurol – volume: 12 start-page: 1000 year: 1997 end-page: 1006 article-title: Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family publication-title: Mov Disord – volume: 17 start-page: 392 year: 2002 end-page: 397 article-title: Novel Italian family supports clinical and genetic heterogeneity of primary adult‐onset torsion dystonia publication-title: Mov Disord – volume: 7 start-page: 207 year: 2008 end-page: 215 article-title: DYT16, a novel young‐onset dystonia‐parkinsonism disorder: identification of a segregating mutation in the stress‐response protein PRKRA publication-title: Lancet Neurol – volume: 50 start-page: 73 year: 1988 end-page: 81 article-title: Hereditary torsion dystonia in gypsies publication-title: Adv Neurol – volume: 15 start-page: 954 year: 2000 end-page: 959 article-title: A Yorkshire family with adult‐onset cranio‐cervical primary torsion dystonia publication-title: Mov Disord – volume: 3 start-page: 673 year: 2004 end-page: 678 article-title: Epidemiology of primary dystonia publication-title: Lancet Neurol – volume: 8 start-page: 489 year: 1993 end-page: 494 article-title: Adult onset familial cervical dystonia: report of a family including monozygotic twins publication-title: Mov Disord – volume: 14 start-page: 820 year: 1999 end-page: 825 article-title: Italian family with cranial cervical dystonia: clinical and genetic study publication-title: Mov Disord – volume: 49 start-page: 362 year: 2001 end-page: 366 article-title: DYT13, a novel primary torsion dystonia locus, maps to chromosome 1p36.13–36.32 in an Italian family with cranial‐cervical or upper limb onset publication-title: Ann Neurol – volume: 42 start-page: 670 year: 1997 end-page: 673 article-title: Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families publication-title: Ann Neurol – volume: 143 start-page: 2098 year: 2007 end-page: 2105 article-title: Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish‐Mennonites publication-title: Am J Med Genet A – volume: 21 start-page: 1782 year: 2006 end-page: 1784 article-title: Atypical phenotypes and clinical variability in a large Italian family with DYT1‐primary torsion dystonia publication-title: Mov Disord – ident: e_1_2_7_2_2 doi: 10.1212/WNL.50.5_Suppl_5.S1 – ident: e_1_2_7_16_2 doi: 10.1002/mds.10634 – ident: e_1_2_7_10_2 doi: 10.1002/1531-8257(200009)15:5<954::AID-MDS1028>3.0.CO;2-I – ident: e_1_2_7_7_2 doi: 10.1002/mds.870080413 – ident: e_1_2_7_14_2 doi: 10.1002/ana.410420421 – ident: e_1_2_7_3_2 doi: 10.1016/S1474-4422(04)00907-X – ident: e_1_2_7_4_2 doi: 10.1002/mds.870120625 – ident: e_1_2_7_12_2 doi: 10.1016/S1474-4422(08)70022-X – volume: 50 start-page: 73 year: 1988 ident: e_1_2_7_17_2 article-title: Hereditary torsion dystonia in gypsies publication-title: Adv Neurol contributor: fullname: Gimenez‐Roldan S – ident: e_1_2_7_8_2 doi: 10.1002/1531-8257(199909)14:5<820::AID-MDS1015>3.0.CO;2-I – ident: e_1_2_7_13_2 doi: 10.1086/302143 – ident: e_1_2_7_5_2 doi: 10.1002/ajmg.a.31887 – ident: e_1_2_7_15_2 doi: 10.1002/ana.73 – ident: e_1_2_7_9_2 doi: 10.1002/mds.10077 – ident: e_1_2_7_11_2 doi: 10.1002/mds.21056 – ident: e_1_2_7_6_2 doi: 10.1002/ana.410400421 |
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| Snippet | We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were... We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty-four individuals spanning three generations were... Abstract We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three... |
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| Title | Clinical and genetic characterization of a large Dutch family with primary focal dystonia |
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