Genetic heterogeneity in rapid onset dystonia-parkinsonism

Description of a new family

K. Kabakci, K. Isbruch, K. Schilling, K. Hedrich, P. De Carvalho Aguiar, L. J. Ozelius, P. L. Kramer, M. H R M Schwarz, Christine Klein

Research output: Contribution to journalArticle

16 Citations (Scopus)

Abstract

Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden onset of dystonic spasm and slowness of movement. To date, three families Have been described that share linkqge to the same location on chromosome 19q13, designated DYT12. Very recently, mutations in the ATP1A3 gene at the DYT12 locus have been demonstrated in seven unrelated patients, including the three previously linked families. A large RDP family is reported here, with eight definitely: and one possibly affected members, that is not linked to the DYT12 region and has no mutation in the ATP1A3 gene. Predominant cranial-cervical involvement of dystonia occurred in this family, which has also been described in patients with idiopathic torsion dystonia linked to the DYT6 region on chromosome 8 and is a rare finding in DYT1 dystonia. Molecular genetic analysis also excluded linkage to the DYT6 locus and the GAG deletion in DVT1, suggesting at least one additional RDP gene.

Original languageEnglish (US)
Pages (from-to)860-862
Number of pages3
JournalJournal of Neurology, Neurosurgery and Psychiatry
Volume76
Issue number6
DOIs
StatePublished - Jun 2005
Externally publishedYes

Fingerprint

Genetic Heterogeneity
Dystonia Musculorum Deformans
Genes
Torticollis
Chromosomes, Human, Pair 8
Mutation
Dystonia
Movement Disorders
Spasm
Molecular Biology
Chromosomes
Dystonia 12

ASJC Scopus subject areas

  • Neuropsychology and Physiological Psychology
  • Neuroscience(all)
  • Psychiatry and Mental health

Cite this

Kabakci, K., Isbruch, K., Schilling, K., Hedrich, K., De Carvalho Aguiar, P., Ozelius, L. J., ... Klein, C. (2005). Genetic heterogeneity in rapid onset dystonia-parkinsonism: Description of a new family. Journal of Neurology, Neurosurgery and Psychiatry, 76(6), 860-862. https://doi.org/10.1136/jnnp.2004.046730

Genetic heterogeneity in rapid onset dystonia-parkinsonism : Description of a new family. / Kabakci, K.; Isbruch, K.; Schilling, K.; Hedrich, K.; De Carvalho Aguiar, P.; Ozelius, L. J.; Kramer, P. L.; Schwarz, M. H R M; Klein, Christine.

In: Journal of Neurology, Neurosurgery and Psychiatry, Vol. 76, No. 6, 06.2005, p. 860-862.

Research output: Contribution to journalArticle

Kabakci, K, Isbruch, K, Schilling, K, Hedrich, K, De Carvalho Aguiar, P, Ozelius, LJ, Kramer, PL, Schwarz, MHRM & Klein, C 2005, 'Genetic heterogeneity in rapid onset dystonia-parkinsonism: Description of a new family', Journal of Neurology, Neurosurgery and Psychiatry, vol. 76, no. 6, pp. 860-862. https://doi.org/10.1136/jnnp.2004.046730
Kabakci, K. ; Isbruch, K. ; Schilling, K. ; Hedrich, K. ; De Carvalho Aguiar, P. ; Ozelius, L. J. ; Kramer, P. L. ; Schwarz, M. H R M ; Klein, Christine. / Genetic heterogeneity in rapid onset dystonia-parkinsonism : Description of a new family. In: Journal of Neurology, Neurosurgery and Psychiatry. 2005 ; Vol. 76, No. 6. pp. 860-862.
@article{f9abb3a9e7264f2998c368645075d80b,
title = "Genetic heterogeneity in rapid onset dystonia-parkinsonism: Description of a new family",
abstract = "Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden onset of dystonic spasm and slowness of movement. To date, three families Have been described that share linkqge to the same location on chromosome 19q13, designated DYT12. Very recently, mutations in the ATP1A3 gene at the DYT12 locus have been demonstrated in seven unrelated patients, including the three previously linked families. A large RDP family is reported here, with eight definitely: and one possibly affected members, that is not linked to the DYT12 region and has no mutation in the ATP1A3 gene. Predominant cranial-cervical involvement of dystonia occurred in this family, which has also been described in patients with idiopathic torsion dystonia linked to the DYT6 region on chromosome 8 and is a rare finding in DYT1 dystonia. Molecular genetic analysis also excluded linkage to the DYT6 locus and the GAG deletion in DVT1, suggesting at least one additional RDP gene.",
author = "K. Kabakci and K. Isbruch and K. Schilling and K. Hedrich and {De Carvalho Aguiar}, P. and Ozelius, {L. J.} and Kramer, {P. L.} and Schwarz, {M. H R M} and Christine Klein",
year = "2005",
month = "6",
doi = "10.1136/jnnp.2004.046730",
language = "English (US)",
volume = "76",
pages = "860--862",
journal = "Journal of Neurology, Neurosurgery and Psychiatry",
issn = "0022-3050",
publisher = "BMJ Publishing Group",
number = "6",

}

TY - JOUR

T1 - Genetic heterogeneity in rapid onset dystonia-parkinsonism

T2 - Description of a new family

AU - Kabakci, K.

AU - Isbruch, K.

AU - Schilling, K.

AU - Hedrich, K.

AU - De Carvalho Aguiar, P.

AU - Ozelius, L. J.

AU - Kramer, P. L.

AU - Schwarz, M. H R M

AU - Klein, Christine

PY - 2005/6

Y1 - 2005/6

N2 - Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden onset of dystonic spasm and slowness of movement. To date, three families Have been described that share linkqge to the same location on chromosome 19q13, designated DYT12. Very recently, mutations in the ATP1A3 gene at the DYT12 locus have been demonstrated in seven unrelated patients, including the three previously linked families. A large RDP family is reported here, with eight definitely: and one possibly affected members, that is not linked to the DYT12 region and has no mutation in the ATP1A3 gene. Predominant cranial-cervical involvement of dystonia occurred in this family, which has also been described in patients with idiopathic torsion dystonia linked to the DYT6 region on chromosome 8 and is a rare finding in DYT1 dystonia. Molecular genetic analysis also excluded linkage to the DYT6 locus and the GAG deletion in DVT1, suggesting at least one additional RDP gene.

AB - Rapid onset dystonia-parkinsonism (RDP) is a rare movement disorder with autosomal dominant inheritance, characterised by sudden onset of dystonic spasm and slowness of movement. To date, three families Have been described that share linkqge to the same location on chromosome 19q13, designated DYT12. Very recently, mutations in the ATP1A3 gene at the DYT12 locus have been demonstrated in seven unrelated patients, including the three previously linked families. A large RDP family is reported here, with eight definitely: and one possibly affected members, that is not linked to the DYT12 region and has no mutation in the ATP1A3 gene. Predominant cranial-cervical involvement of dystonia occurred in this family, which has also been described in patients with idiopathic torsion dystonia linked to the DYT6 region on chromosome 8 and is a rare finding in DYT1 dystonia. Molecular genetic analysis also excluded linkage to the DYT6 locus and the GAG deletion in DVT1, suggesting at least one additional RDP gene.

UR - http://www.scopus.com/inward/record.url?scp=20444416430&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=20444416430&partnerID=8YFLogxK

U2 - 10.1136/jnnp.2004.046730

DO - 10.1136/jnnp.2004.046730

M3 - Article

VL - 76

SP - 860

EP - 862

JO - Journal of Neurology, Neurosurgery and Psychiatry

JF - Journal of Neurology, Neurosurgery and Psychiatry

SN - 0022-3050

IS - 6

ER -