MAPT N279K

MUTATIONS MAPT 44087690 GRCh37/hg19 rs63750756 T G Exon 10 Point, Missense Coding Affects splicing similar to many of the intronic mutations, resulting in more frequent inclusion of exon 10 in mRNA transcripts. Also, reduces lysosomal degradation of tau in iPSC-der

MAPT IVS9-10 G> T (g(-10)t)

MUTATIONS MAPT 44087666 GRCh37/hg19 rs63749974 G T g.123701G> T g.120880G> T IVS9-10 G> T Intron 9 Point Non-Coding This intronic mutation stregthens the splice acceptor site, resulting in more frequent inclusion of exon 10 into mRNA transcripts. Four-repe

PAPER Malkani R, D'Souza I, Gwinn-Hardy K, Schellenberg GD, Hardy J, Momeni P

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia.

Neurobiol Dis. 2006 May;22(2):401-3. Epub 2006 Feb 28 PubMed: 16503405

MAPT G273R

MUTATIONS MAPT 44074025 GRCh37/hg19 G A g.110065G> A g.107239G> A Exon 9 Point, Missense Coding Unknown. Unknown. G273R Frontotemporal Dementia: PathogenicFrontotemporal Dementia This mutation was identified in one out of 98 Belgian individuals dignosed with

MAPT G272V

MUTATIONS MAPT 44074023 GRCh37/hg19 rs63750376 G T g.110063G> T g.107237G> T Exon 9 Point, Missense Coding Mutant tau proteins are more favorable substrates for phosphorylation than wild-type tau. Severe frontotemporal lobe atrophy; Neuronal loss in hippocamp

PAPER Groen JJ, Endtz LJ

Hereditary Pick's disease: second re-examination of the large family and discussion of other hereditary cases, with particular reference to electroencephalography, a computerized tomography.

Brain. 1982 Sep;105 (Pt 3):443-59. PubMed: 7104662

MAPT P270P

MUTATIONS MAPT 44074018 GRCh37/hg19 rs11568305 G A g.110058G> A g.107232G> A Exon 9 Point, Silent Coding Unknown. Not applicable. P270P Frontotemporal Dementia: BenignNone This silent polymorphism was detected in healthy family members as well as at least one

MAPT L266L

MUTATIONS MAPT 44074006 GRCh37/hg19 G A g.110046G> A g.107220G> A Exon 9 Point, Silent Coding Unknown. Not applicable. L266L Frontotemporal Dementia: BenignNone This synonymous change was identified in one individual originating from Pakistan (Guerreiro et al

MAPT L266V

MUTATIONS MAPT 44074004 GRCh37/hg19 rs63750349 C G g.110044C> G g.107218C> G Exon 9 Point, Missense Coding Increased levels of exon 10+ tau mRNA and soluble four-repeat (4R) tau; Decreased rate and extent of tau-induced microtubule assembly; A 3R isoform-spec

PAPER Kobayashi T, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H

A novel L266V mutation of the tau gene causes frontotemporal dementia with a unique tau pathology.

Ann Neurol. 2003 Jan;53(1):133-7. PubMed: 12509859

Nigel Greig on Single-Blind Trial: Diabetes Drug Helps Parkinson’s, Maybe

COMMENT I view this study of exenatide as very exciting, albeit an "open" clinical trial (without placebo). This caveat is well described by the authors and in the accompanying commentary. Open clinical trials clearly have pluses (reduced expense, there

PAPER Bertilsson G, Patrone C, Zachrisson O, Andersson A, Dannaeus K, Heidrich J, Kortesmaa J, Mercer A, Nielsen E, Rönnholm H, Wikström L

Peptide hormone exendin-4 stimulates subventricular zone neurogenesis in the adult rodent brain and induces recovery in an animal model of Parkinson's disease.

J Neurosci Res. 2008 Feb 1;86(2):326-38. PubMed: 17803225

PAPER Harkavyi A, Abuirmeileh A, Lever R, Kingsbury AE, Biggs CS, Whitton PS

Glucagon-like peptide 1 receptor stimulation reverses key deficits in distinct rodent models of Parkinson's disease.

J Neuroinflammation. 2008;5:19. PubMed: 18492290

PAPER Foltynie T, Kahan J

Parkinson's disease: an update on pathogenesis and treatment.

J Neurol. 2013 May;260(5):1433-40. PubMed: 23589196

Keren Soenarjo

Indonesia