Mutated Genes

• Tijero B, Gomez-Esteban JC, Llorens V, Lezcano E, Gonzalez-Fernández MC, de Pancorbo MM, Ruiz-Martinez J, et al. Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the alpha-synuclein gene (SNCA). Clin Auton Res. 2010 Aug; 20(4): 267-9. (BSIT)

• Cenedese V, Mezzavilla M, Morgan A, Marino R, Ettorre CP, Margaglione M, Gasparini P, Menini A. Assessment of the olfactory function in Italian patients with type 3 von Willebrand disease caused by a homozygous 253 Kb deletion involving VWF and TMEM16B/ANO2. PLoS One. 2015 Jan 30;10(1):e0116483. (UPSIT)

• Machaczka M, Paucar M, Björkvall CK, Smith NJC, Cox TM, Forsgren L, Svenningsson P. Novel hyperkinetic dystonia-like manifestation and neurological disease course of Swedish Gaucher patients. Blood Cells Mol Dis. 2018 Feb;68:86-92. doi: 10.1016/j.bcmd.2016.10.011. Epub 2016 Oct 21. PMID: 27789132.​ (UPSIT)

• Alfaro R, Doty T, Narayanan A, Lugar H, Hershey T, Pepino MY. Taste and smell function in Wolfram syndrome. Orphanet J Rare Dis. 2020 Feb 22;15(1):57. (UPSIT)

2022

• Lopez GJ, Lichtenberg J, Tayebi N, Ryan E, Lecker AL, Sidransky E. Longitudinal evaluation of olfactory function in individuals with Gaucher disease and GBA1 mutation carriers with and without Parkinson’s disease. Front Neurol. 2022 Oct 18;13:1039214. doi: 10.3389/fneur.2022.1039214. PMID: 36330429; PMCID: PMC9622935. (UPSIT)