Death of a president and his assassin--errors in their diagnosis and autopsies.

On July 2, 1881, Charles Julius Guiteau shot President James Abram Garfield in the right flank. The President died because of infection produced by the unsterile fingers and probes repeatedly inserted into the wound. The major complaint of the wounded President was intractable pain in his legs and feet. This symptom failed to alert the doctors to the possibility of vertebral and spinal cord injury. Garfield died with sepsis after 80 days of intense national concern, and for the patient there was psychological, physical, and nutritional deprivation. His autopsy revealed the bullet was not in the pelvis as his doctors had expected, but adjacent to the first lumbar vertebra it had shattered. The trial and execution of Guiteau split the medical community into those that considered him insane and those who felt execution was justified. Guiteau was delusional and his brain revealed chronic inflammation and histological features suggestive of syphilis. At the time, and since, the propriety of the execution has been questioned.

Historical comments on tardive dyskinesia: a neurologist's perspective.

This article was undertaken to review the history of professional awareness of tardive dyskinesia (TD) and to address reasons for the delay in such recognition. The literature was reviewed, and selections are included to highlight some of the major issues. Personal recollections are deliberately emphasized since they may reflect the phenomenon of personal discovery familiar to others and the now widespread professional awareness of TD. TD is indeed well recognized by psychiatrists and neurologists, and most general practitioners are also aware that the syndrome exists. Physicians were once unfamiliar with the concept of a drug reaction that was so long delayed as is possible with TD, nor did they know that a drug side effect could present in this manner. The historical delay in initial recognition of TD, and the reason for such delay, remain of interest. The lack of a perfect therapy and the uncertainty regarding the precise pathophysiologic basis of TD remain as challenges. Most psychiatrists, and many neurologists, probably have vivid memories of specific patients with TD. This author, a neurologist, was blessed to work with George Crane and other investigators in the early days of TD and was witness to some of the original uncertainty regarding what seemed to be a new phenomenon. TD has reshaped our concepts of disease and our awareness that diseases can originate from deleterious late effects of beneficial agents.

Type 1 ataxia with oculomotor apraxia with aprataxin gene mutations in two American children.

Ataxia and oculomotor apraxia are seen in ataxia-telangiectasia, type 1 ataxia with oculomotor apraxia, and type 2 ataxia with oculomotor apraxia; however, only type 1 ataxia with oculomotor apraxia is associated with aprataxin gene mutation. We report two American children, a sister and a brother, with type 1 ataxia with oculomotor apraxia and aprataxin gene mutations and briefly review type 1 ataxia with oculomotor apraxia.

A dominantly inherited progressive deafness affecting distal auditory nerve and hair cells.

We have studied 72 members belonging to a large kindred with a hearing disorder inherited in an autosomal dominant pattern. We used audiological, physiological, and psychoacoustic measures to characterize the hearing disorders. The initial phenotypic features of the hearing loss are of an auditory neuropathy (AN) with abnormal auditory nerve and brainstem responses (ABRs) and normal outer hair cell functions [otoacoustic emissions (OAEs) and cochlear microphonics (CMs)]. Psychoacoustic studies revealed profound abnormalities of auditory temporal processes (gap detection, amplitude modulation detection, speech discrimination) and frequency processes (difference limens) beyond that seen in hearing impairment accompanying cochlear sensory disorders. The hearing loss progresses over 10-20 years to also involve outer hair cells, producing a profound sensorineural hearing loss with absent ABRs and OAEs. Affected family members do not have evidence of other cranial or peripheral neuropathies. There was a marked improvement of auditory functions in three affected family members studied after cochlear implantation with return of electrically evoked auditory brainstem responses (EABRs), auditory temporal processes, and speech recognition. These findings are compatible with a distal auditory nerve disorder affecting one or all of the components in the auditory periphery including terminal auditory nerve dendrites, inner hair cells, and the synapses between inner hair cells and auditory nerve. There is relative sparing of auditory ganglion cells and their axons.

Genetics of pediatric movement disorders.

Movement disorders in children often have a genetic basis. An explosion of genetic information in the past decade has led to the discovery of genetic defects in many forms of ataxia, parkinsonism, dystonia, tremor, and spastic paraparesis. This review focuses on genetically defined, early-onset diseases characterized primarily or exclusively by movement disorders. Particular emphasis is placed on disorders for which clinical or research testing is available.

Idiopathic Parkinson's disease(s) may follow subclinical episodes of perivenous demyelination.

Three case studies of postvaccinal parkinsonism (PVP) demonstrated signs and symptoms identical to conventional diagnostic standards of idiopathic Parkinson's disease (PD). PVP is a sub-type of acute disseminated encephalomyelitis (ADE) that also includes postinfectious parkinsonism (PIP) and postinfectious encephalomyelitis (PIE). All ADE has a unitary pathology consisting of monophasic perivenous inflammation followed by demyelination compared with PD in which Lewy bodies are present in only 75% of studies. We hypothesize that: (1) The seminal event in PD is latent viral invasion emanating from cranial and dorsal root ganglia. (2) Viruses intermittently invade and damage neuropigmented cells secondary to perivenous demyelination. This may explain the numerous clinical and pathological manifestations of PD. Evidence is presented that this pathoetiology probably accumulates subclinically over a long timespan prior to Levy body formation and presentation of clinical signs. This hypothesis has key features similar to one previously published that will be summarized concerning multiple sclerosis.

Illnesses of the brain in John Quincy Adams.

John Quincy Adams, the sixth and perhaps most scholarly American president, served courageously despite familial essential tremor, depression, and cerebrovascular disease. His cousin Samuel Adams and his father John Adams also had essential tremor, which the later called "quiveration". Alcoholism and depression affected several members of J.Q. Adams's family. Following his own time as president, J.Q. Adams returned to duty as the congressman who most assiduously fought slavery, a fight he continued even after he had suffered a major left hemispheric stroke. His fatal collapse in Congress, protesting the Mexican War, is legendary among the final illnesses of American statesmen.

Dr. William Thornton's views on sleep, dreams, and resuscitation.

William Thornton, MD, was a polymath who designed the Capitol of the U.S. Capital and the Octagon House, present home of the American Institute of Architecture. He was the founding director of the U.S. Patent Office. His collected papers, which are now preserved at the U.S. Library of Congress, though pruned by the wife who lived almost 40 years after him, are extensive and include comments on science, education, slavery, and politics. His views on sleep and dreaming and his concepts of resuscitation are reviewed as the opinions of an educated man early in the nineteenth century.