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Fragments of torsion dystonia

MedGen UID:
509628
•Concept ID:
C0154675
•
Disease or Syndrome
SNOMED CT: Fragments of torsion dystonia (192859002)

Recent clinical studies

Etiology

Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.
Schuback D, Kramer P, Ozelius L, Holmgren G, Forsgren L, Kyllerman M, Wahlström J, Craft CM, Nygaard T, Brin M
Hum Genet 1991 Jul;87(3):311-6. doi: 10.1007/BF00200910. PMID: 1677923

Diagnosis

Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF
Am J Hum Genet 1992 Mar;50(3):619-28. PMID: 1347197Free PMC Article

Therapy

Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.
Breakefield XO, Bressman SB, Kramer PL, Ozelius L, Moskowitz C, Tanzi R, Brin MF, Hobbs W, Kaufman D, Tobin A
J Neurogenet 1986 May;3(3):159-75. doi: 10.3109/01677068609106846. PMID: 3016220

Prognosis

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J
Genes (Basel) 2022 Jan 11;13(1) doi: 10.3390/genes13010126. PMID: 35052466Free PMC Article
GAG deletion in the DYT1 gene in early limb-onset idiopathic torsion dystonia in Germany.
Kamm C, Castelon-Konkiewitz E, Naumann M, Heinen F, Brack M, Nebe A, Ceballos-Baumann A, Gasser T
Mov Disord 1999 Jul;14(4):681-3. doi: 10.1002/1531-8257(199907)14:4<681::aid-mds1020>3.0.co;2-m. PMID: 10435508
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF
Am J Hum Genet 1992 Mar;50(3):619-28. PMID: 1347197Free PMC Article

Clinical prediction guides

Elucidating Hexanucleotide Repeat Number and Methylation within the X-Linked Dystonia-Parkinsonism (XDP)-Related SVA Retrotransposon in TAF1 with Nanopore Sequencing.
Lüth T, Laβ J, Schaake S, Wohlers I, Pozojevic J, Jamora RDG, Rosales RL, Brüggemann N, Saranza G, Diesta CCE, Schlüter K, Tse R, Reyes CJ, Brand M, Busch H, Klein C, Westenberger A, Trinh J
Genes (Basel) 2022 Jan 11;13(1) doi: 10.3390/genes13010126. PMID: 35052466Free PMC Article
Strong allelic association between the torsion dystonia gene (DYT1) andloci on chromosome 9q34 in Ashkenazi Jews.
Ozelius LJ, Kramer PL, de Leon D, Risch N, Bressman SB, Schuback DE, Brin MF, Kwiatkowski DJ, Burke RE, Gusella JF
Am J Hum Genet 1992 Mar;50(3):619-28. PMID: 1347197Free PMC Article
Dopamine beta-hydroxylase gene excluded in four subtypes of hereditary dystonia.
Schuback D, Kramer P, Ozelius L, Holmgren G, Forsgren L, Kyllerman M, Wahlström J, Craft CM, Nygaard T, Brin M
Hum Genet 1991 Jul;87(3):311-6. doi: 10.1007/BF00200910. PMID: 1677923
Assignment of the X-linked torsion dystonia gene to Xq21 by linkage analysis.
Kupke KG, Lee LV, Müller U
Neurology 1990 Sep;40(9):1438-42. doi: 10.1212/wnl.40.9.1438. PMID: 1975433
Linkage analysis in a family with dominantly inherited torsion dystonia: exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromosomal regions using DNA polymorphisms.
Breakefield XO, Bressman SB, Kramer PL, Ozelius L, Moskowitz C, Tanzi R, Brin MF, Hobbs W, Kaufman D, Tobin A
J Neurogenet 1986 May;3(3):159-75. doi: 10.3109/01677068609106846. PMID: 3016220

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