Accomplishments in Autonomic Research
- First neuropathological studies in patients with familial dysautonomia.
- The first complete neuropathological description of pure autonomic failure and the first description of alpha synuclein accumulation in peripheral autonomic nerves.
- The first neuropathological description of patients with Lewy bodies synucleinopathies presenting with long standing isolated autonomic failure.
- Comprehensive study of the vasocative peptides, enothelin, atrial natriuretic peptide, and vasopressin in autonomic synucleinopathies that lead to the use of baroreflex mediated vasopressin release to distinguish among two of them (pure autonomic failure and multiple system atrophy).
- Description of the characteristic features of familial dysautonomia.
- Therapeutic trials of the alpha agonist midodrine and the norepinephrine precursor dyhydroxyphnylserine (droxidopa) in patients with chronic orthostatic hypotension due to autonomic failure.
- Therapeutic trials of the alpha agonist midodrine in patients with familial dysautonomia.
- Use of fundoplication to prevent aspiration pneumonia leading to a dramatic increase in life expectancy of patients with familial dysautonomia.
- An algorithm for brain MRI based differential diagnosis of Parkinson’s disease and multiple system atrophy.
- Therapeutic trials of botulinum toxin type A in primary palmar hyperhidrosis and the first description of “subclinical” muscle weakness in the hand even when using therapeutic doses of the toxin.
- The first complete description of a vestibular autonomic reflex in humans.
- Identification of the genetic mutation responsible for familial dysautonomia in collaboration with Harvard University researchers.
