PAPER Specketer K, Zabetian CP, Edwards KL, Tian L, Quinn JF, Peterson-Hiller AL, Chung KA, Hu SC, Montine TJ, Cholerton BA

Visuospatial functioning is associated with sleep disturbance and hallucinations in nondemented patients with Parkinson's disease.

J Clin Exp Neuropsychol. 2019 Oct;41(8):803-813. Epub 2019 Jun 10 PubMed: 31177941

PAPER Matias-Guiu JA, Díaz-Álvarez J, Cuetos F, Cabrera-Martín MN, Segovia-Ríos I, Pytel V, Moreno-Ramos T, Carreras JL, Matías-Guiu J, Ayala JL

Machine learning in the clinical and language characterisation of primary progressive aphasia variants.

Cortex. 2019 Oct;119:312-323. Epub 2019 May 18 PubMed: 31181419

PAPER Lunde NN, Bosnjak T, Solberg R, Johansen HT

Mammalian legumain- A lysosomal cysteine protease with extracellular functions?

Biochimie. 2019 Nov;166:77-83. Epub 2019 Jun 7 PubMed: 31181234

PAPER Yang H, Bath PA

The Use of Data Mining Methods for the Prediction of Dementia: Evidence from the English Longitudinal Study of Aging.

IEEE J Biomed Health Inform. 2019 Jun 6; PubMed: 31180874

PAPER Chen S, Cai F, Wang J, Yang Z, Gu C, Wang G, Mao G, Yan J

Salidroside protects SH‑SY5Y from pathogenic α‑synuclein by promoting cell autophagy via mediation of mTOR/p70S6K signaling.

Mol Med Rep. 2019 Jul;20(1):529-538. Epub 2019 May 23 PubMed: 31180515

PAPER González-Casacuberta I, Juárez-Flores DL, Ezquerra M, Fucho R, Catalán-García M, Guitart-Mampel M, Tobías E, García-Ruiz C, Fernández-Checa JC, Tolosa E, Martí MJ, Grau JM, Fernández-Santiago R, Cardellach F, Morén C, Garrabou G

Mitochondrial and autophagic alterations in skin fibroblasts from Parkinson disease patients with Parkin mutations.

Aging (Albany NY). 2019 Jun 9;11(11):3750-3767. PubMed: 31180333

PAPER Compta Y, Dias SP, Giraldo DM, Pérez-Soriano A, Muñoz E, Saura J, Fernández M, Bravo P, Cámara A, Pulido-Salgado M, Painous C, Ríos J, Martí MJ, CMSAR consortium

Cerebrospinal fluid cytokines in multiple system atrophy: A cross-sectional Catalan MSA registry study.

Parkinsonism Relat Disord. 2019 Aug;65:3-12. Epub 2019 Jun 3 PubMed: 31178335

PAPER Bocharov EV, Nadezhdin KD, Urban AS, Volynsky PE, Pavlov KV, Efremov RG, Arseniev AS, Bocharova OV

Familial L723P Mutation Can Shift the Distribution between the Alternative APP Transmembrane Domain Cleavage Cascades by Local Unfolding of the Ε-Cleavage Site Suggesting a Straightforward Mechanism of Alzheimer's Disease Pathogenesis.

ACS Chem Biol. 2019 Jul 19;14(7):1573-1582. Epub 2019 Jun 19 PubMed: 31180641

Rebecca Batchelor

PSEN1 T119I

MUTATIONS PSEN1 73640291 GRCh37/hg19 C T Exon 5 Point, Missense Coding Unknown, but most in silico analyses predict it to be damaging, as do structural data. CADD-PHRED score = 24. Unknown, but in 3 cases, PiB-PET revealed amyloid in frontal, parietal, and temporal

PAPER Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL, ACMG Laboratory Quality Assurance Committee

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Genet Med. 2015 May;17(5):405-24. Epub 2015 Mar 5 PubMed: 25741868

Greg Czyryca

Allosterix Pharmaceuticals, LLC
Lehi, United States

Stefan Berghoff

Max Planck Institute of Experimental Medicine
Goettigen, Germany

PSEN1 I249L

MUTATIONS PSEN1 73659548 GRCh37/hg19 rs1363575880 A C Exon 7 Point, Missense Coding Increased Aβ42 and Aβ42/Aβ40 ratio, with no effect on PSEN1 endoproteolysis or Aβ43 production, in transfected cells. In silico analyses yielded mixed results: SIFT=tolerated; PolyP

AL003

THERAPEUTICS AbbVie Alector Immunotherapy (passive) Inflammation In March 2019, AL003 entered the clinic with a 54-person trial being run at six sites in the United States and Melbourne, Australia (May 2019 conference news). The trial finished in May 2021, and results