PAPER Conforti FL, Spataro R, Sproviero W, Mazzei R, Cavalcanti F, Condino F, Simone IL, Logroscino G, Patitucci A, Magariello A, Muglia M, Rodolico C, Valentino P, Bono F, Colletti T, Monsurrò MR, Gambardella A, La Bella V

Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis.

Neurology. 2012 Dec 11;79(24):2315-20. PubMed: 23197749

Russell Swerdlow on Low cerebrospinal fluid concentration of mitochondrial DNA in preclinical Alzheimer disease.

COMMENT This study advances the AD biomarker field by identifying a new marker, in this case cerebrospinal fluid (CSF) mitochondrial DNA (mtDNA) levels. The authors present data that suggest CSF mtDNA changes precede CSF Aβ changes. While one must use caution whe

Gregory A. Petsko on FUS-regulated region- and cell-type-specific transcriptome is associated with cell selectivity in ALS/FTLD.

COMMENT The work seems carefully done, and the results are clearly presented. I also think it represents an important attempt to get at a central problem in neuodegenerative diseases in general (and ALS in particular): the issue of selective vulnerability. Take t

Ronald Chicone

Titusville, United States

J Chhibber

Ireland

One Mutation, Two Diseases in Family with Ataxin-2 Expansion

RESEARCH NEWS 2013-08-23 Research News An expanded repeat region in the ataxin-2 gene causes spinocerebellar ataxia or boosts risk for amyotrophic lateral sclerosis, leading scientists to believe it was only a matter of time before they would find both diseases in a single family

Diabetes and Depression: A Dementia-Causing Duo

RESEARCH NEWS 2013-08-23 Research News While people with type 2 diabetes are at greater risk for Alzheimer’s disease, predicting who among them will go on to develop dementia remains difficult. Two new studies offer some clues. In the inaugural Lancet Diabetes & Endocrinology

Studies Suggest Mitochondria Changes Precede Aging, Alzheimer’s

RESEARCH NEWS 2013-08-23 Research News Much research has linked mitochondrial dysfunction with aging and age-related syndromes such as Alzheimer’s disease (AD), but it remains unclear whether harm to these cellular powerhouses precedes or results from disease processes. Two new s

PAPER Alavi A, Nafissi S, Rohani M, Shahidi G, Zamani B, Shamshiri H, Safari I, Elahi E

Repeat expansion in C9ORF72 is not a major cause of amyotrophic lateral sclerosis among Iranian patients.

Neurobiol Aging. 2014 Jan;35(1):267.e1-7. PubMed: 23962495

PAPER Holm AC

Neurodegenerative and psychiatric overlap in frontotemporal lobar degeneration: a case of familial frontotemporal dementia presenting with catatonia.

Int Psychogeriatr. 2013 Aug 20;:1-3. PubMed: 23962693

PAPER Riudavets MA, Sraka MA, Schultz M, Rojas E, Martinetto H, Begué C, de Halac IN, Poleggi A, Equestre M, Pocchiari M, Sevlever G, Taratuto AL

Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation.

Brain Pathol. 2013 Aug 15; PubMed: 23944754

PAPER Heckman MG, Elbaz A, Soto-Ortolaza AI, Serie DJ, Aasly JO, Annesi G, Auburger G, Bacon JA, Boczarska-Jedynak M, Bozi M, Brighina L, Chartier-Harlin MC, Dardiotis E, Destée A, Ferrarese C, Ferraris A, Fiske B, Gispert S, Hadjigeorgiou GM, Hattori N, Ioannidis JP, Jasinska-Myga B, Jeon BS, Kim YJ, Klein C, Kruger R, Kyratzi E, Lin CH, Lohmann K, Loriot MA, Lynch T, Mellick GD, Mutez E, Opala G, Park SS, Petrucci S, Quattrone A, Sharma M, Silburn PA, Sohn YH, Stefanis L, Tadic V, Tomiyama H, Uitti RJ, Valente EM, Vassilatis DK, Vilariño-Güell C, White LR, Wirdefeldt K, Wszolek ZK, Wu RM, Xiromerisiou G, Maraganore DM, Farrer MJ, Ross OA,

The protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Neurobiol Aging. 2014 Jan;35(1):266.e5-14. PubMed: 23962496

PAPER Singhal NK, Chauhan AK, Jain SK, Shanker R, Singh C, Singh MP

Silymarin- and melatonin-mediated changes in the expression of selected genes in pesticides-induced Parkinsonism.

Mol Cell Biochem. 2013 Dec;384(1-2):47-58. PubMed: 23963992

PAPER Cassiano C, Esposito R, Tosco A, Zampella A, D'Auria MV, Riccio R, Casapullo A, Monti MC

Heteronemin, a marine sponge terpenoid, targets TDP-43, a key factor in several neurodegenerative disorders.

Chem Commun (Camb). 2013 Aug 21; PubMed: 23963116

PAPER Puchades M, Sogn CJ, Maehlen J, Bergersen LH, Gundersen V

Unaltered lactate and glucose transporter levels in the MPTP mouse model of Parkinson's disease.

J Parkinsons Dis. 2013 Jan 1;3(3):371-85. PubMed: 23963315