caa a22 4500 397574363 CHVBK 20180308164851.0 cr unu---uuuuu 161202e199601 xx s 000 0 eng 10.1093/hmg/5.1.151 doi (NATIONALLICENCE)oxford-10.1093/hmg/5.1.151 Localization of the Gene for Rapidly Progressive Autosomal Dominant Parkinsonism and Dementia with Pallido-Ponto-Nigral Degeneration to Chromosome 17q21 [Elektronische Daten] [Mario Wijker, Zbigniew K. Wszolek, Eric C. H. Wolters, Martin A. Rooimans, Gerard Pals, Ronald F. Pfeiffer, Timothy Lynch, R. L. Rodnitzky, Kirk C. Wilhelmsen, Fré 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 ∼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. © 1996 Oxford University Press Wijker Mario Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut Wszolek Zbigniew K. Department of Internal Medicine, University of Nebraska, Omaha, NE, USA aut Wolters Eric C. H. Graduate School of Neurosciences Amsterdam, Department of Neurology, Academic Hospital Free University Amsterdam, The Netherlands aut Rooimans Martin A. Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut Pals Gerard Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut Pfeiffer Ronald F. University of Tennessee, Memphis, TN, USA aut Lynch Timothy Department of Neurology, Columbia University, New York, USA aut Rodnitzky R. L. Division of Neurology, University of Iowa, Iowa City, IA, USA aut Wilhelmsen Kirk C. Division of Neurology, University of Iowa, Iowa City, IA, USA aut Arwert Fré Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut Human Molecular Genetics Oxford University Press 5/1(1996-01), 151-154 0964-6906 5:1<151 1996 5 hmg https://doi.org/10.1093/hmg/5.1.151 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1093/hmg/5.1.151 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Wijker Mario Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Wszolek Zbigniew K. Department of Internal Medicine, University of Nebraska, Omaha, NE, USA aut NATIONALLICENCE 700 1- Wolters Eric C. H. Graduate School of Neurosciences Amsterdam, Department of Neurology, Academic Hospital Free University Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Rooimans Martin A. Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Pals Gerard Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut NATIONALLICENCE 700 1- Pfeiffer Ronald F. University of Tennessee, Memphis, TN, USA aut NATIONALLICENCE 700 1- Lynch Timothy Department of Neurology, Columbia University, New York, USA aut NATIONALLICENCE 700 1- Rodnitzky R. L. Division of Neurology, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Wilhelmsen Kirk C. Division of Neurology, University of Iowa, Iowa City, IA, USA aut NATIONALLICENCE 700 1- Arwert Fré Department of Human Genetics, Free University Amsterdam, v.d. Boechorststraat 7, 1081 BT Amsterdam, The Netherlands aut NATIONALLICENCE 773 0- Human Molecular Genetics Oxford University Press 5/1(1996-01), 151-154 0964-6906 5:1<151 1996 5 hmg Metadata rights reserved CC BY-NC-4.0 http://creativecommons.org/licenses/by-nc/4.0 nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-oxford