Parkinsonism due to A53E α-synuclein gene mutation: Clinical, genetic, epigenetic, and biochemical features

Alzheimer’s Disease

Development of a Biochemical Diagnosis of Parkinson Disease by Detection of α-Synuclein Misfolded Aggregates in Cerebrospinal Fluid.

JAMA Neurol.

Shahnawaz M, Tokuda T, Waragai M, Mendez N, Ishii R, Trenkwalder C, Mollenhauer B, Soto C

doi: 10.1001/jamaneurol.

Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation

Lancet Neurol.

Latourelle JC, Beste MT, Hadzi TC, Miller RE, Oppenheim JN, Valko MP, Wuest DM, Church BW, Khalil IG, Hayete B, Venuto CS

doi: 10.1016/

Aging and Cognitive FunctionsAnxiety and Depression

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts

Lancet Neurol.

Liu G, Locascio JJ, Corvol JC, Boot B, Liao Z, Page K, Franco D, Burke K, Jansen IE, Trisini-Lipsanopoulos A, Winder-Rhodes S, Tanner CM, Lang AE, Eberly S, Elbaz A, Brice A, Mangone G, Ravina B, Shoulson I, Cormier-Dequaire F, Heutink P, van Hilten JJ, Barker RA, Williams-Gray CH, Marinus J, Scherzer CR

doi: 10.1016/

Parkinson’s Disease

Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study

Lancet Neurol.

Wilson H, Dervenoulas G, Pagano G, Koros C, Yousaf T, Picillo M, Polychronis S, Simitsi A, Giordano B, Chappell Z, Corcoran B, Stamelou M, Gunn RN, Pellecchia MT, Rabiner EA, Barone P, Stefanis L, Politis M

doi: 10.1016/S1474-4422

Dementia

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

Ann Neurol.

Cilia R, Tunesi S, Marotta G, Cereda E, Siri C, Tesei S, Zecchinelli AL, Canesi M, Mariani CB, Meucci N, Sacilotto G, Zini M, Barichella M, Magnani C, Duga S, Asselta R, Soldà G, Seresini A, Seia M, Pezzoli G, Goldwurm S

doi: 10.1002/ana.24777.

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

Brain.

Robak LA, Jansen IE, van Rooij J, Uitterlinden AG, Kraaij R, Jankovic J; International Parkinson’s Disease Genomics Consortium (IPDGC), Heutink P, Shulman JM; IPDGC Consortium members; International Parkinson’s Disease Genomics Consortium (IPDGC)

doi: 10.1093/brain/awx285.

Aging and Cognitive FunctionsParkinson’s DiseaseDementia

Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Mov Disord.

Respondek G, Kurz C, Arzberger T, Compta Y, Englund E, Ferguson LW, Gelpi E, Giese A, Irwin DJ, Meissner WG, Nilsson C, Pantelyat A, Rajput A, van Swieten JC, Troakes C, Josephs KA, Lang AE, Mollenhauer B, Müller U, Whitwell JL, Antonini A, Bhatia KP, Bordelon Y, Corvol JC, Colosimo C, Dodel R, Grossman M, Kassubek J, Krismer F, Levin J, Lorenzl S, Morris H, Nestor P, Oertel WH, Rabinovici GD, Rowe JB, van Eimeren T, Wenning GK, Boxer A, Golbe LI, Litvan I, Stamelou M, Höglinger GU; Movement Disorder Society-Endorsed PSP Study Group

doi: 10.1002/mds.27034.

Parkinson’s Disease

Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

Lancet Neurol.

Simuni T, Uribe L, Cho HR, Caspell-Garcia C, Coffey CS, Siderowf A, Trojanowski JQ, Shaw LM, Seibyl J, Singleton A, Toga AW, Galasko D, Foroud T, Tosun D, Poston K, Weintraub D, Mollenhauer B, Tanner CM, Kieburtz K, Chahine LM, Reimer A, Hutten SJ, Bressman S, Marek K, PPMI Investigators.

doi: 10.1016/S1474-4422(19)30319-9.Visit the original publication at ncbi.nlm.nih.gov

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes

JAMA Neurol.

Coutelier M, Hammer MB, Stevanin G, Monin ML, Davoine CS, Mochel F, Labauge P, Ewenczyk C, Ding J, Gibbs JR, Hannequin D, Melki J, Toutain A, Laugel V, Forlani S, Charles P, Broussolle E, Thobois S, Afenjar A, Anheim M, Calvas P, Castelnovo G, de Broucker T, Vidailhet M, Moulignier A, Ghnassia RT, Tallaksen C, Mignot C, Goizet C, Le Ber I, Ollagnon-Roman E, Pouget J, Brice A, Singleton A, Durr A

doi: 10.1001/

Related content

Development of a Biochemical Diagnosis of Parkinson Disease by Detection of α-Synuclein Misfolded Aggregates in Cerebrospinal Fluid.

Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation

Prediction of cognition in Parkinson's disease with a clinical-genetic score: a longitudinal analysis of nine cohorts

Serotonergic pathology and disease burden in the premotor and motor phase of A53T α-synuclein parkinsonism: a cross-sectional study

Survival and dementia in GBA-associated Parkinson's disease: The mutation matters.

Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease

Which ante mortem clinical features predict progressive supranuclear palsy pathology?

Clinical and dopamine transporter imaging characteristics of non-manifest LRRK2 and GBA mutation carriers in the Parkinson's Progression Markers Initiative (PPMI): a cross-sectional study

Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes