Olfactory dysfunction in Parkinsonism caused by PINK1 mutations

Alessandro Ferraris, Tamara Ialongo, Giulio Cesare Passali, Maria Teresa Pellecchia, Livia Brusa, Marianna Laruffa, Arianna Guidubaldi, Gaetano Paludetti, Alberto Albanese, Paolo Barone, Bruno Dallapiccola, Enza Maria Valente, Anna Rita Bentivoglio

Research output: Contribution to journalArticle

34 Citations (Scopus)


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.
Original languageEnglish
Pages (from-to)2350-2357
Number of pages8
JournalMovement Disorders
Publication statusPublished - 2009


  • Adolescent
  • Adult
  • Aged
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Odors
  • Olfaction Disorders
  • Parkinsonian Disorders
  • Protein Kinases
  • Sensory Thresholds
  • Smell
  • Young Adult


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