Usher syndrome (USH), the most frequent type of hereditary combined deafness and blindness in adults, represents a heterogenous group of autosomal-recessive disorders characterized by congenital sensorineural hearing loss (SNHL), retinitis pigmentosa (RP), and, in some cases, vestibular dysfunction. The standard classification of this multisensory disease usually recognizes two distinct clinica...

The sense of smell is one of the essential tools for all living things to survive. For example, it enables them to escape from danger in advance or find food to sustain life [1,2]. For human beings, it also has been crucial function for better quality of life. There has been a recent increase in diseases associated with olfactory dysfunction as shown in Fig. 1 [3]. Moreover, because many patien...

OBJECTIVES To present methods and baseline results for an online screening tool to identify increased risk for Parkinson's disease (PD) in the UK population. METHODS Risk estimates for future PD were derived from the results of a systematic review of risk factors and early features of PD. Participants aged 60-80 years without PD were recruited by self-referral. They completed an online survey...

Uvulopalatopharyngoplasty (UPPP) has been a popular surgical method for treating obstructive sleep apnea syndrome since it was introduced in the early 1980s. Olfactory loss has been reported as a rare side effect in several cases. However, the olfactory test results and the prognosis were not mentioned in these cases. We present two patients who complained of loss of olfactory function after UP...

Dysosmia in PD (Parkinson’s Disease) may result from changes in the olfactory apparatus or in structures involved in olfactory perception. Previous work has suggested that deep brain stimulation (DBS) patients have improved odor discrimination in stimulation-on/medicationoff state in comparison to their own scores in a stimulation-off/ medication-off state. What remains unclear is whether it is...

OBJECTIVE 22q11 deletion syndrome, a common human interstitial deletion syndrome (1:5000), is associated with a heterogeneous physical phenotype, including several factors that markedly increase the risk for olfactory disorder. Despite its potential consequences, pediatric studies of impaired olfaction are rare, and odor detection in children with 22q11 deletion syndrome has not yet been examin...

INTRODUCTION Olfactory dysfunction develops in many neurodegenerative diseases, and is an early feature of the most common neurodegen-erative disorder, Alzheimer's disease (AD). 1–5 Anatomically, the central olfactory pathways traverse brain regions implicated in the common neurodegenerative diseases, including the mesial temporal and inferior frontal lobes. 6–10 Phenotypically, AD shows substa...

To explore the nature of the olfactory dysfunction associated with Parkinson's disease (PD), 81 PD patients who scored well on a cognitive screening test were administered the 40-odorant University of Pennsylvania Smell Identification Test; 38 were additionally given a forced-choice phenylethyl alcohol odor detection threshold test. Clinical ratings of 11 neurologic symptoms (three bilateral) w...