Olfactory dysfunction in Parkinsonism caused by <I>PINK1</I> mutations Export

@article{citeulike:6083049, abstract = {Hyposmia is a common nonmotor feature of Parkinson's disease (PD) and has been variably detected in monogenic Parkinsonisms. To assess olfactory dysfunction in PINK1-related Parkinsonism, we evaluated olfactory detection threshold, odor discrimination, and odor identification in five groups of subjects: sporadic PD (n = 19), PINK1 homozygous (n = 7), and heterozygous (n = 6) parkinsonian patients, asymptomatic PINK1 heterozygous carriers (n = 12), and Italian healthy subjects (n = 67). All affected subjects and all healthy heterozygotes but one resulted hyposmic, with most patients in the range of functional anosmia or severe hyposmia. Detection threshold was more preserved and discrimination more impaired in patients with PINK1 mutations than in PD cases. Alterations of detection and discrimination were observed also in PINK1 asymptomatic heterozygotes. On the contrary, odor identification appeared to be mostly related to the disease status, as it was impaired in nearly all patients (including PD and PINK1 cases) and preserved in healthy heterozygotes. Our data indicate that olfactory dysfunction is common in PINK1 Parkinsonism and consists typically in defective odor identification and discrimination. A milder olfactory deficit, mostly involving discrimination, can be found in asymptomatic heterozygotes, possibly indicating an underlying preclinical neurodegenerative process. {\copyright} 2009 Movement Disorder Society}, address = {CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy; Department of Experimental Medicine, Sapienza University, Rome, Italy; Institute of Neurology, Catholic University, Rome, Italy; Institute of Otorhinolaryngology, Catholic University, Rome, Italy; Department of Neurological Sciences, University Federico II, and IDC-Herritage-Capodimonte, Naples, Italy; Department of Neurology, Sant'Eugenio Hospital, Rome, Italy; Department of Neurology, Carlo Besta Neurological Institute and Catholic University, Milan, Italy; Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy}, author = {Ferraris, Alessandro and Ialongo, Tamara and Passali, Giulio C. and Pellecchia, Maria T. and Brusa, Livia and Laruffa, Marianna and Guidubaldi, Arianna and Paludetti, Gaetano and Albanese, Alberto and Barone, Paolo and Dallapiccola, Bruno and Valente, Enza M. and Bentivoglio, Anna R.}, citeulike-article-id = {6083049}, citeulike-linkout-0 = {http://dx.doi.org/10.1002/mds.22816}, citeulike-linkout-1 = {http://www3.interscience.wiley.com/cgi-bin/abstract/122675240/ABSTRACT}, doi = {10.1002/mds.22816}, issn = {1531-8257}, journal = {Movement Disorders}, number = {9999}, pages = {NA+}, posted-at = {2009-11-07 15:45:21}, priority = {3}, title = {Olfactory dysfunction in Parkinsonism caused by <I>PINK1</I> mutations}, url = {http://dx.doi.org/10.1002/mds.22816}, volume = {9999}, year = {2009} }

TY - JOUR ID - citeulike:6083049 L3 - citeulike-article-id:6083049 N2 - Hyposmia is a common nonmotor feature of Parkinson's disease (PD) and has been variably detected in monogenic Parkinsonisms. To assess olfactory dysfunction in PINK1-related Parkinsonism, we evaluated olfactory detection threshold, odor discrimination, and odor identification in five groups of subjects: sporadic PD (n = 19), PINK1 homozygous (n = 7), and heterozygous (n = 6) parkinsonian patients, asymptomatic PINK1 heterozygous carriers (n = 12), and Italian healthy subjects (n = 67). All affected subjects and all healthy heterozygotes but one resulted hyposmic, with most patients in the range of functional anosmia or severe hyposmia. Detection threshold was more preserved and discrimination more impaired in patients with PINK1 mutations than in PD cases. Alterations of detection and discrimination were observed also in PINK1 asymptomatic heterozygotes. On the contrary, odor identification appeared to be mostly related to the disease status, as it was impaired in nearly all patients (including PD and PINK1 cases) and preserved in healthy heterozygotes. Our data indicate that olfactory dysfunction is common in PINK1 Parkinsonism and consists typically in defective odor identification and discrimination. A milder olfactory deficit, mostly involving discrimination, can be found in asymptomatic heterozygotes, possibly indicating an underlying preclinical neurodegenerative process. © 2009 Movement Disorder Society IS - 9999 JF - Movement Disorders SN - 1531-8257 AD - CSS-Mendel Institute, Casa Sollievo della Sofferenza Hospital, Rome, Italy; Department of Experimental Medicine, Sapienza University, Rome, Italy; Institute of Neurology, Catholic University, Rome, Italy; Institute of Otorhinolaryngology, Catholic University, Rome, Italy; Department of Neurological Sciences, University Federico II, and IDC-Herritage-Capodimonte, Naples, Italy; Department of Neurology, Sant'Eugenio Hospital, Rome, Italy; Department of Neurology, Carlo Besta Neurological Institute and Catholic University, Milan, Italy; Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy TI - Olfactory dysfunction in Parkinsonism caused by <I>PINK1</I> mutations VL - 9999 SP - NA AU - Ferraris, Alessandro AU - Ialongo, Tamara AU - Passali, Giulio AU - Pellecchia, Maria AU - Brusa, Livia AU - Laruffa, Marianna AU - Guidubaldi, Arianna AU - Paludetti, Gaetano AU - Albanese, Alberto AU - Barone, Paolo AU - Dallapiccola, Bruno AU - Valente, Enza AU - Bentivoglio, Anna PY - 2009/// UR - http://dx.doi.org/10.1002/mds.22816 ER -