Smell, Voice and Nasal Swabs as Markers for Neuro-degenerative Disorders

Degenerative dementias including Alzheimer's Disease (AD), Parkinson's Disease with Dementia (PDD), Dementia with Lewy Bodies (DLB), Frontotemporal Dementias (FTLD), Corticobasal Degeneration (CBD) and Progressive Supranuclear Palsy (PSP) constitute a significant, and growing burden with an estimated cost to the US healthcare system for 2016 of $236 Billion (1). Definitive diagnosis of these dementias is based on pathological criterion upon autopsy, which presents a significant challenge to establish diagnosis in living patients. Although clinical diagnostic criteria have been developed for several of these disorders, including for Alzheimer's Disease (AD) by the National Institute of Neurological and Communicative Disorders and Stroke and Alzheimers Disease and Related Disorders Association (NINCDS-ADRDA) , Parkinson's Disease (PD) by the United Kingdom Parkinson Disease Brain Bank Diagnostic Criteria (UKPDBB) diagnostic criteria for Parkinson Disease(4) and others, the currently available tests, including the use of imaging markers and Cerebrospinal Fluid (CSF) biological markers do not provide a definite diagnosis since this requires the observation of characteristic neuropathological changes in specific regions of the brain.

• Twenty people with Parkinson's Disease requiring evaluation of voice dysfunction by an Ear, Nose, and Throat (ENT) doctor

• Twenty people with other neurodegenerative disorders requiring evaluation of voice dysfunction by an ENT doctor.

Twenty people with voice tremor and/or presbylarynx, but no evidence of Parkinson's other neurodegenerative disease, requiring evaluation of voice dysfunction by an ENT doctor.

Determine if nasal swabs can provide an adequate sample for evaluation using cytology and immunohistochemistry for alpha-synuclein, A-beta and p-tau staining.

Determine if nasal swabs can provide an adequate sample for evaluation using cytology and immunohistochemistry for alpha-synuclein, Amyloid-beta (A-beta) and Phospho-tau (p-tau) staining.

Inclusion Criteria: Diagnosed with idiopathic Parkinson's disease, progressive supranuclear palsy, Alzheimer's disease or Mild Cognitive Impairment based on consensus criteria, or suspicion of presbylarynx based on clinical evaluation. Require evaluation of voice dysfunction by an ENT doctor given symptoms of impaired voice volume or quality Age ≥ 18 years-old to ≤ 90-years old. Ability to understand and the willingness to sign a written informed consent. Exclusion Criteria: Uncontrolled intercurrent illness including, but not limited to, ongoing or active infection, symptomatic congestive heart failure, unstable angina pectoris, cardiac arrhythmia, or psychiatric illness/social situations that would limit compliance with study requirements. Active nose bleeds, or abnormal anatomy of the nose that prevent safe nasal swabs, or active oropharyngeal disease that prevents laryngoscopy or voice assessments.