Seven Deadly Sins by Guy Leschziner

Author:Guy Leschziner [Leschziner, Guy]
Language: eng
Format: epub
Publisher: HarperCollinsPublishers
Published: 2024-10-21T12:00:00+00:00

The chorea of Huntington’s disease

George Huntington was only twenty-one when he graduated from Columbia University in 1871. He was working as a family doctor in East Hampton, close to the eastern tip of Long Island, New York, when he observed cases of dementia and abnormal movements in his middle-aged patients, strongly running in families.[14] His father and grandfather, also local doctors, had seen these patients before, all of whom were descended from one man, Jeffrey Francis, who had arrived there from England in 1634. Francis had brought with him to the New World the gene responsible for this neurological disorder, a terrible inheritance for his progeny.[fn6] Huntington, building on the work of his father and grandfather before him, published an essay in the Medical and Surgical Reporter of Philadelphia in April 1872, detailing his patients and this condition. The essay was titled ‘On Chorea’, and described the abnormal movements of these individuals, chorea being derived from the Ancient Greek for dance:

The name ‘chorea’ is given to the disease on account of the dancing propensities of those who are affected by it, and it is a very appropriate designation. Its most marked and characteristic feature is a clonic spasm affecting the voluntary muscles … The disease commonly begins by slight twitchings in the muscles of the face, which gradually increase in violence and variety. The eyelids are kept winking, the brows are corrugated, and then elevated, the nose is screwed first to the one side and then to the other, and the mouth is drawn in various directions, giving the patient the most ludicrous appearance imaginable … As the disease progresses the mind becomes more or less impaired, in many amounting to insanity, while in others mind and body gradually fail until death relieves them of their suffering. When either or both the parents have shown manifestations of the disease, one or more of the offspring invariably suffers from the condition … It never skips a generation to again manifest itself in another …[15]

As so frequently occurs in the history of medicine and eponymous conditions, others had described these patients in the medical literature several years earlier, but it was George Huntington’s name that was immortalised through the disease. The chorea – these dancing-like movements that can affect face or limbs; the inability to keep still – was the hallmark of the condition, and its absence in Becky’s father’s case led to his diagnosis being delayed for many years.

Our genetic and clinical understanding of Huntington’s disease has progressed since Dr Huntington’s famous paper of 1872. Fortunately, we now better know the cause and its various manifestations.

Each of us carries two copies of the huntingtin gene, the protein product of which is produced in all our cells, but particularly in the brain. The huntingtin protein has an important role in preventing cell death and promoting the development of neurones.

The gene itself has a property that is commonly found in many other genes. Our genetic code comprises a sequence of 3 billion letters, each corresponding to a modified sugar molecule, chained together within the structure of DNA.

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