Human Molecular Genetics, Vol 5, 151-154, Copyright © 1996 by Oxford University Press
M Wijker, ZK Wszolek, EC Wolters, MA Rooimans, G Pals, RF Pfeiffer, T Lynch, RL Rodnitzky, KC Wilhelmsen and F Arwert
Rapidly progressive autosomal dominant parkinsonism and dementia with
pallido-ponto-nigral degeneration (PPND) is a neurodegenerative disorder
which begins later in life (> 30 years of age) and is characterized by
rapidly progressive parkinsonism, dystonia, dementia, perservative
vocalizations and pyramidal tract dysfunction. The disease is observed in a
large American family that includes almost 300 members in nine generations
with 34 affected individuals. In this kindred evidence for linkage to
chromosome 17q21 was obtained with a maximum lod score of 9.08 for the
D17S958 locus. Multilocus analysis positions the disease gene in an
approximately 10 cM region between D17S250 and D17S943. Notably, the
disease locus for a clinically distinct familial neurodegenerative disease
named 'disinhibition-dementia-parkinsonism- amyotrophy complex' (DDPAC) was
recently mapped to the same region of chromosome 17, suggesting that PPND
and DDPAC may possibly originate from mutations in the same gene.
ARTICLES
Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21
Department of Human Genetics, Free University Amsterdam, Netherlands.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  S. Spina, M. R. Farlow, F. W. Unverzagt, D. A. Kareken, J. R. Murrell, G. Fraser, F. Epperson, R. A. Crowther, M. G. Spillantini, M. Goedert, et al. The tauopathy associated with mutation +3 in intron 10 of Tau: characterization of the MSTD family Brain, January 1, 2008; 131(1): 72 - 89. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. J. Zarranz, I. Ferrer, E. Lezcano, M. I. Forcadas, B. Eizaguirre, B. Atares, B. Puig, J. C. Gomez-Esteban, C. Fernandez-Maiztegui, I. Rouco, et al. A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron disease Neurology, May 10, 2005; 64(9): 1578 - 1585. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 S. Kondo, N. Yamamoto, T. Murakami, M. Okumura, A. Mayeda, and K. Imaizumi Tra2{beta}, SF2/ASF and SRp30c modulate the function of an exonic splicing enhancer in exon 10 of tau pre-mRNA Genes Cells, February 1, 2004; 9(2): 121 - 130. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. A. Racette, M. Rundle, J. C. Wang, A. Goate, N. L. Saccone, M. Farrer, S. Lincoln, J. Hussey, S. Smemo, J. Lin, et al. A multi-incident, Old-Order Amish family with PD Neurology, February 26, 2002; 58(4): 568 - 574. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 C. B. Bradshaw, R. L. Davis, A. E. Shrimpton, P. D. Holohan, C. B. Rea, D. Fieglin, P. Kent, and G. H. Collins Cognitive Deficits Associated With a Recently Reported Familial Neurodegenerative Disease: Familial Encephalopathy With Neuroserpin Inclusion Bodies Arch Neurol, September 1, 2001; 58(9): 1429 - 1434. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 P S Mathuranath, J. H Xuereb, T. Bak, and J. R Hodges Corticobasal ganglionic degeneration and/or frontotemporal dementia? A report of two overlap cases and review of literature J. Neurol. Neurosurg. Psychiatry, March 1, 2000; 68(3): 304 - 312. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 I. D'Souza, P. Poorkaj, M. Hong, D. Nochlin, V. M.-Y. Lee, T. D. Bird, and G. D. Schellenberg Missense and silent tau gene mutations cause frontotemporal dementia with parkinsonism-chromosome 17 type, by affecting multiple alternative RNA splicing regulatory elements PNAS, May 11, 1999; 96(10): 5598 - 5603. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. N. van den Pol Hypothalamic Hypocretin (Orexin): Robust Innervation of the Spinal Cord J. Neurosci., April 15, 1999; 19(8): 3171 - 3182. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. N. van den Pol, X.-B. Gao, K. Obrietan, T. S. Kilduff, and A. B. Belousov Presynaptic and Postsynaptic Actions and Modulation of Neuroendocrine Neurons by a New Hypothalamic Peptide, Hypocretin/Orexin J. Neurosci., October 1, 1998; 18(19): 7962 - 7971. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. P. Rowland Molecular Basis of Genetic Heterogeneity: Role of the Clinical Neurologist J Child Neurol, March 1, 1998; 13(3): 122 - 132. [Abstract] [PDF]
|
|
|
|
|
|
H. Basun, O. Almkvist, K. Axelman, A. Brun, T. A. Campbell, J. Collinge, C. Forsell, S. Froelich, L.-O. Wahlund, L. Wetterberg, et al. Clinical Characteristics of a Chromosome 17--Linked Rapidly Progressive Familial Frontotemporal Dementia Arch Neurol, May 1, 1997; 54(5): 539 - 544. [Abstract] [PDF]
|
|