MAPT V289A

MUTATIONS MAPT 44061036 GRCh37/hg19 rs62063787 T C g.97076T> C g.94250T> C Exon 4a Point, Missense Coding Unknown. Not applicable. V289A Frontotemporal Dementia: BenignNone This variant in exon 4a may be a relatively common polymorphism. It was detected in 22

PAPER Higgins JJ, Golbe LI, De Biase A, Jankovic J, Factor SA, Adler RL

An extended 5'-tau susceptibility haplotype in progressive supranuclear palsy.

Neurology. 2000 Nov 14;55(9):1364-7. PubMed: 11087782

MAPT L284R

MUTATIONS MAPT 44087704 GRCh37/hg19 T G Exon 10 Point, Missense Coding Unknown. Unknown. L284R Other Tauopathy: Pathogenic, Frontotemporal Dementia: BenignProgressive Supranuclear Palsy This mutation was identified in a Caucasian family from southern England. The f

MAPT L284L

MUTATIONS MAPT 44087705 GRCh37/hg19 rs63751423 T C g.123740T> C g.120919T> C Exon 10 Point, Silent Coding The silent L284L increases transcripts containing exon 10 and decreases transcripts lacking exon 10. The mutation is thought to destroy an exon-splicing

Susan Gurney

United States

Can Network Analysis Identify Pathological Pathways in Alzheimer’s

WEBINAR 2013-06-04 See Q&A with panelists below In the April 25 Cell, Valur Emilsson at the Icelandic Heart Association and Eric Schadt at Icahn School of Medicine at Mount Sinai, New York, report that they have identified molecular networks that are perturbed in Alzhei

MAPT K280del

MUTATIONS MAPT 44087694 GRCh37/hg19 rs63750688 AAG--- ΔK280 Exon 10 Deletion Coding The K280del variant is unusal in that it inhibits exon 10 inclusion and leads to an excess of 3-repeat (3R) tau transcripts. It also has been shown to reduce tau's ability to p

Pradip Kamat on Okadaic acid induced neurotoxicity: An emerging tool to study Alzheimer's disease pathology.

COMMENT This paper may help generate new ideas in AD drug development. 0 pradeepkamat2004

Vitalii Kravchenko on Larry Sparks, of Alzheimer’s-Cholesterol Fame, Dies at 63

COMMENT His death was premature. Mourning. vitaliy_62 0

Thorsten Lehr on A semi-physiological model of amyloid-β biosynthesis and clearance in human cerebrospinal fluid: a tool for alzheimer's disease research and drug development.

COMMENT The presented model may be an interesting data analysis alternative for stable isotope labeling kinetics studies on amyloid-β biosynthesis and clearance in vivo. 0 thorsten.lehr

PAPER 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.

Eur J Neurol. 2001 Mar;8(2):179-83. PubMed: 11284997

PAPER 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.

Electroencephalogr Clin Neurophysiol. 1998 Sep;107(3):213-22. PubMed: 9803952

PAPER 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.

Ann Neurol. 1992 Sep;32(3):312-20. PubMed: 1416801

PAPER 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 Neuropathol. 1993;86(6):609-16. PubMed: 8310816

PAPER 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.

Hum Mol Genet. 1996 Jan;5(1):151-4. PubMed: 8789453