Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36Citation formats

  • Authors:
  • D. J. Hampshire
  • E. Roberts
  • Y. Crow
  • J. Bond
  • A. Mubaidin
  • And 3 others
  • External authors:
  • A. L. Wriekat
  • A. Al-Din
  • C. G. Woods

Standard

Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. / Hampshire, D. J.; Roberts, E.; Crow, Y.; Bond, J.; Mubaidin, A.; Wriekat, A. L.; Al-Din, A.; Woods, C. G.

In: Journal of Medical Genetics, Vol. 38, No. 10, 2001, p. 680-682.

Research output: Contribution to journal › Article › peer-review

Harvard

Hampshire, DJ, Roberts, E, Crow, Y, Bond, J, Mubaidin, A, Wriekat, AL, Al-Din, A & Woods, CG 2001, 'Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36', Journal of Medical Genetics, vol. 38, no. 10, pp. 680-682.

APA

Hampshire, D. J., Roberts, E., Crow, Y., Bond, J., Mubaidin, A., Wriekat, A. L., Al-Din, A., & Woods, C. G. (2001). Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. Journal of Medical Genetics, 38(10), 680-682.

Vancouver

Hampshire DJ, Roberts E, Crow Y, Bond J, Mubaidin A, Wriekat AL et al. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. Journal of Medical Genetics. 2001;38(10):680-682.

Author

Hampshire, D. J. ; Roberts, E. ; Crow, Y. ; Bond, J. ; Mubaidin, A. ; Wriekat, A. L. ; Al-Din, A. ; Woods, C. G. / Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. In: Journal of Medical Genetics. 2001 ; Vol. 38, No. 10. pp. 680-682.

Bibtex

@article{8fd6a843eb2244df842beb2ffdab92db,
title = "Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36",
abstract = "Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.",
keywords = "Autozygosity mapping, Chromosome 1p36, Kufor-Rakeb syndrome, Parkinson's disease",
author = "Hampshire, {D. J.} and E. Roberts and Y. Crow and J. Bond and A. Mubaidin and Wriekat, {A. L.} and A. Al-Din and Woods, {C. G.}",
year = "2001",
language = "English",
volume = "38",
pages = "680--682",
journal = "Journal of Medical Genetics",
issn = "1468-6244",
publisher = "BMJ ",
number = "10",

}

RIS

TY - JOUR

T1 - Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36

AU - Hampshire, D. J.

AU - Roberts, E.

AU - Crow, Y.

AU - Bond, J.

AU - Mubaidin, A.

AU - Wriekat, A. L.

AU - Al-Din, A.

AU - Woods, C. G.

PY - 2001

Y1 - 2001

N2 - Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.

AB - Kufor-Rakeb syndrome is an autosomal recessive nigro-striatal-pallidal-pyramidal neurodegeneration. The onset is in the teenage years with clinical features of Parkinson's disease plus spasticity, supranuclear upgaze paresis, and dementia. Brain scans show atrophy of the globus pallidus and pyramids and, later, widespread cerebral atrophy. We report linkage in Kufor-Rakeb syndrome to a 9 cM region of chromosome 1p36 delineated by the markers D1S436 and D1S2843, with a maximum multipoint lod score of 3.6.

KW - Autozygosity mapping

KW - Chromosome 1p36

KW - Kufor-Rakeb syndrome

KW - Parkinson's disease

M3 - Article

VL - 38

SP - 680

EP - 682

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

SN - 1468-6244

IS - 10

ER -