Wszolek ZK, Pfeiffer RF, Bhatt MH, Schelper RL, Cordes M, Snow BJ, Rodnitzky RL, Wolters EC, Arwert F, Calne DB. Rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration. Annals of Neurology 32: 312-320, 1992 (PubMed ID: 1416801)

Mutations

MAPT: (Asn279Lys)

ID: 201

Kawai J, Sasahara M, Hazama F, Kuno S, Komure O, Nomura S, Yamaguchi M. Pallidonigroluysian degeneration with iron deposition: a study of three autopsy cases. Acta Neuropathologica 86: 609-616, 1993 (PubMed ID: 8310816)

Mutations

MAPT: (Asn279Lys)

ID: 202

Wijker M, Wszolek ZK, Wolters EC, Rooimans MA, Pals G, Pfeiffer RF, Lynch T, Rodnitzky RL, Wilhelmsen KC, Arwert F. Localization of the gene for rapidly progressive autosomal dominant parkinsonism and dementia with pallido-ponto-nigral degeneration to chromosome 17q21. Human Molecular Genetics 5: 151-154, 1996 (PubMed ID: 8789453)

Mutations

MAPT: (Asn279Lys)

ID: 199

Reed LA, Schmidt ML, Wszolek ZK, Balin BJ, Soontornniyomkij V, Lee VM, Trojanowski JQ, Schelper RL. The neuropathology of a chromosome 17-linked autosomal dominant parkinsonism and dementia ("pallido-ponto-nigral degeneration"). Journal of Neuropathology and Experimental Neurology 57: 588-601, 1998 (PubMed ID: 9630238)

Mutations

MAPT: (Asn279Lys)

ID: 198

Wszolek ZK, Lagerlund TD, Steg RE, McManis PG. Clinical neurophysiologic findings in patients with rapidly progressive familial parkinsonism and dementia with pallido-ponto-nigral degeneration. Electroencephalography and Clinical Neurophysiology 107: 213-222, 1998 (PubMed ID: 9803952)

Mutations

MAPT: (Asn279Lys)

ID: 200

Clark LN, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC. Pathogenic implications of mutations in the tau gene in pallido-ponto-nigral degeneration and related neurodegenerative disorders linked to chromosome 17. Proceedings of the National Academy of Sciences USA 95: 13103-13107, 1998 (PubMed ID: 9789048)

Mutations

MAPT: (Asn279Lys) (Pro301Leu) (IVS10+14C>T)

ID: 196

Delisle MB, Murrell JR, Richardson R, Trofatter JA, Rascol O, Soulages X, Mohr M, Calvas P, Ghetti B. A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy. Acta Neuropathologica 98: 62-77, 1999 (PubMed ID: 10412802)

Mutations

MAPT: (Asn279Lys)

ID: 204

Yasuda M, Kawamata T, Komure O, Kuno S, D'Souza I, Poorkaj P, Kawai J, Tanimukai S, Yamamoto Y, Hasegawa H, Sasahara M, Hazama F, Schellenberg GD, Tanaka C. A mutation in the microtubule-associated protein tau in pallido-nigro-luysian degeneration. Neurology 53: 864-868, 1999 (PubMed ID: 10489057)

Mutations

MAPT: (Asn279Lys)

ID: 203

Arima K, Kowalska A, Hasegawa M, Mukoyama M, Watanabe R, Kawai M, Takahashi K, Iwatsubo T, Tabira T, Sunohara N. Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. Neurology 54: 1787-1795, 2000 (PubMed ID: 10802785)

Mutations

MAPT: (Asn279Lys)

ID: 207

Wszolek ZK, Tsuboi Y, Uitti RJ, Reed L. Two brothers with frontotemporal dementia and parkinsonism with an N279K mutation of the tau gene. Neurology 55: 1939, 2000 (PubMed ID: 11134413)

Mutations

MAPT: (Asn279Lys)

ID: 208

McRae CA, Diem G, Yamazaki TG, Mitek A, Wszolek ZK. Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): a family with frontotemporal dementia with Parkinsonism linked to chromosome 17. European Journal of Neurology 8: 179-183, 2001 (PubMed ID: 11284997)

Mutations

MAPT: (Asn279Lys)

ID: 210

Kowalska A, Asada T, Arima K, Kumakiri C, Kozubski W, Takahashi K, Tabira T. Genetic analysis in patients with familial and sporadic frontotemporal dementia: two tau mutations in only familial cases and no association with apolipoprotein epsilon4. Dementia and Geriatric Cognitive Disorders 12: 387-392, 2001 (PubMed ID: 11598310)

Mutations

MAPT: (Pro176) (EX8 Thr2) (Asn279Lys) (Pro301Leu)

ID: 256

Tsuboi Y, Uitti RJ, Delisle MB, Ferreira JJ, Brefel-Courbon C, Rascol O, Ghetti B, Murrell JR, Hutton M, Baker M, Wszolek ZK. Clinical features and disease haplotypes of individuals with the N279K tau gene mutation: a comparison of the pallidopontonigral degeneration kindred and a French family. Archives of Neurology 59: 943-950, 2002 (PubMed ID: 12056930)

Mutations

MAPT: (Asn279Lys)

ID: 205

Cheshire WP, Tsuboi Y, Wszolek ZK. Physiologic assessment of autonomic dysfunction in pallidopontonigral degeneration with N279K mutation in the tau gene on chromosome 17.. Autonomic Neuroscience 102: 71-77, 2002 (PubMed ID: 12492138)

Mutations

MAPT: (Asn279Lys)

ID: 195

Tsuboi Y, Baker M, Hutton ML, Uitti RJ, Rascol O, Delisle MB, Soulages X, Murrell JR, Ghetti B, Yasuda M, Komure O, Kuno S, Arima K, Sunohara N, Kobayashi T, Mizuno Y, Wszolek ZK. Clinical and genetic studies of families with the tau N279K mutation (FTDP-17). Neurology 59: 1791-1793, 2002 (PubMed ID: 12473774)

Mutations

MAPT: (Asn279Lys)

ID: 206

Caviness JN, Tsuboi Y, Wszolek ZK. Clinical-electrophysiological correlation of tremor and myoclonus in a kindred with the N279K tau mutation. Parkinsonism and Related Disorders 9: 151-157, 2003 (PubMed ID: 12573870)

Mutations

MAPT: (Asn279Lys)

ID: 194

Ferman TJ, McRae CA, Arvanitakis Z, Tsuboi Y, Vo A, Wszolek ZK. Early and pre-symptomatic neuropsychological dysfunction in the PPND family with the N279K tau mutation. Parkinsonism and Related Disorders 9: 265-270, 2003 (PubMed ID: 12781592)

Mutations

MAPT: (Asn279Lys)

ID: 197

Soliveri P, Rossi G, Monza D, Tagliavini F, Piacentini S, Albanese A, Bugiani O, Girotti F. A case of dementia parkinsonism resembling progressive supranuclear palsy due to mutation in the tau protein gene. Archives of Neurology 60: 1454-1456, 2003 (PubMed ID: 14568818)

Mutations

MAPT: (Asn279Lys)

ID: 209

Woodruff BK, Baba Y, Hutton ML, Wszolek ZK, Tsuboi Y, Kobayashi T, Ghetti B, Arima K, Yasuda M, Rascol O. Haplotype-phenotype correlations in kindreds with the N279K mutation in the tau gene. Archives of Neurology 61: 1327, 2004 (PubMed ID: 15313857)

Mutations

MAPT: (Asn279Lys)

ID: 324