History of Huntington’s Disease

History of Huntington’s Disease

Unfortunately, from the beginning, Huntington's disease has been subject to discriminatione and social stigma.

Today the genetic cause of the disease is known, and we are able to reproduce it in the laboratory in animal models, we know more and more about the many underlying biochemical events and a cure seems to be within a closer reach. A single gene is responsible for the disease, with a DNA trait larger than necessary, which generates a protein with a high number of amino acids called glutamines, or, in technical jargon, 'Q'. The more 'Qs' are transmitted by the sick parent, the earlier the disease manifests itself in the children. Only today we have started to define the multiple clinical variants of the disease and we can locate its presence in almost all populations of the world and in all races.

"That disorder” (that evil): discrimination has distant origins

Despite this enormous gain of knowledge, Huntington's disease has not, however, been divested of the fame it has been carrying for at least two thousand years, when the 'Qs' inside that gene were already too many and toxic. Since then, it was identified as a discriminated and unmentionable disease, to the extent of being defined by ordinary people, in the 1800s, as "that disorder - that evil". Before the clearest and most famous description was made in 1872 by an American doctor from Long Island, near New York, called George Huntington (photo?), published on a scientific journal of the time in an article entitled "on chorea", the disease had unclear connotations and was characterized by two elements, i.e. involuntary movement as an uncontrollable dance (hence the name choreic from the Greek) and mental disorder.

It is said that the first descriptions of involuntary movements date back to the time of the Holy Scriptures, when the Bible reported that some miracles had been done to people presumably suffering from this disease. The first, perhaps, to give an initial description was an eccentric, quite arrogant and unconventional gentleman who called himself Paracelsus, who, at the beginning of 1500, recognized it as a possible disease. Subsequently, the typical involuntary choreic movement took on various names depending on the place in which it was described: "St. Joh's or St. Vitus' Dance" in Germany, "Dance de St. Guy" in France or, from Latin, "Chorea Sancti Viti", the latter perhaps being the best known of all. Between 1500 and 1800, the disease then assumed other names including “Tarantism", probably from the Italian dance originated in Lecce called "Taranta", as reported by the Canadian neurologist Andre Barbeau, in an article published in 1958 on the Journal of Nervous and Mental Disease. Historical reconstructions of the families, later described by George Huntington, who emigrated from England to the United States, report the presence of sick people from Chorea already since 1600.

Vessie's description of 1932, reported about English emigrants from the English County of Suffolk, whose families tried to escape one of the most popular sports of old England, the 'witch hunt'. It is certain that entire English families, whose descendants were later described as suffering from the disease by George Huntington at the end of the 19th century, were persecuted for witchcraft, imprisoned and considered to be carriers of mental disorders. Descendants of these families, who landed in the United States in 1630 on board the vessel John Winthrop, certainly underwent a similar treatment. The typical choreic body contortions of the disease were considered to be the sign of the devil's bestial expression. The widespread ignorance led to the thought that the spasms of the body were considered as a kind of representation of Christ's suffering during crucifixion. As a consequence of the genetic nature of that disease, which at the time was certainly not interpreted according to scientific principles, discrimination was directed not only at those who suffered from the disorder but at the whole family to which they belonged. Therefore, the disease was unmentionable and hurled by the American society of the 19th century as "that disorder - that evil".

Knowledge on the disease

George Huntington (in the picture) learned about the disease as a child, acquiring his first impressions from his father, a doctor, and comprehensively described it for the first time at the age of 22, summarizing its three key features: tendency to suicide and mental disorder, heredity and progressively disabling nature. George Huntington's description conveyed the knowledge on the disease in the civil society, as, luckily enough, it had been translated into German. This allowed the diffusion of the name and the main clinical characteristics, but did not guarantee protection from social discrimination.

Racism and discrimination continued in our century

The sadly known 1933 edict of the Third Reich in the Nazi Germany reported about HD as the only neurological disease, among the conditions, along with schizophrenia, for which forced sterilization was required. On the other side of the ocean, an American doctor named Davenport, at an earlier time, reserved equally discriminating racist considerations for choreic patients.

The discovery of the gene (thanks to the study of a Venezuelan and a Neapolitan family)

The real gain of knowledge is due to the identification of entire families affected by the disease in specific areas of the world, which allowed the subsequent discovery of the responsible gene and the cause of the disease. The best known group of people affected by Huntington’s chorea is in the Maracaibo area of Venezuela, where a population of about 14,000 sick people currently live. The origin of the spread of the disease in this area is due to a North European sailor who landed on the Venezuelan coasts, at the beginning of 1800, in a fishing village in the state of Zulia. Since then the disease, a genetic disorder transmitted to children in a dominant form, has spread in that area causing a devastation of that population.

Almost every family of poor fishermen, in one of the most degraded areas in the world, is home to one or more Huntington patients. Since 1979, an expedition of doctors and researchers from the United States began to study and analyze those cases of Chorea, marking the breakthrough of first identifying the chromosomal region in 1983 and then the gene responsible for the disease in 1993. The contribution that this population has made to scientific research on the disease is enormous. It was little known that a family of Italian origin, resident in Naples, had given a relevant contribution to that discovery, followed by Italian researchers who described it for the first time in 1992.

More knowledge is not yet "equal to" less discrimination

Since the identification of the genetic cause to date the gain of knowledge has been enormous, genetic testing allows the recognition of the disease and its cause even before the manifestation of symptoms and many of the biochemical mechanisms that represent the biological origin of the disease are known. Today a formidable task force joins researchers and specialists from across the globe in the fight against the disease and many possible new drugs are undergoing clinical trials or are about to be tested and represent a valid hope for families all over the world. Researcher and patient organizations are devoting their energies to counter this devastating disease and, in the meantime, they keep on fighting against discrimination coming from a judgmental and still too ignorant society.

(Text by Ferdinando Squitieri, 2013)