Scientific Description of the Hepato-Lenticular Degeneration

Labunskiy, D.; Kiryukhina, S.; N, K.

Авторы: Labunskiy D., Kiryukhina S., N Kolmykova
Журнал: Movement Disorders
Том: 35
Номер: 1
Год издания: 2020
Издательство: John Wiley & Sons Inc.
Местоположение издательства: United States
Первая страница: 231
Последняя страница: 231
Номер статьи: 231
Аннотация: Objective: Hepato-Lenticular Degeneration (HLD) first described by German pathologist Friedrich Theodor von Frerichs in 1854, but in the West it called Wilson’s Disease. In Russia and countries of the former Soviet Union and some nations of the Soviet Block it holds a name Wilson-Konovalov’s Disease.Background: HLD is an autosomal recessive disorder in which one or more gene mutations disrupt copper metabolism in the liver. As a result, there is less copper excretion via the bile, which results in an increased accumulation of copper in the liver, the eye, the central nervous system and other organs. This results in a diverse pattern of symptoms, which manifests itself primarily in liver damage and neurological deficits. The disease can be treated well with medications that lower the copper level in the blood or prevent the absorption of copper. The last alternative is liver transplantation. The disease was named after the British-American neurologist Samuel Alexander Kinnier Wilson.Method: We studied archives and neurological journals from 1800s and 1900s.Results: Samuel Wilson (1878 – 1937) in 1912 described changes in brain typical of hepato-cerebral dystonia, established constant presence of cirrhosis of liver and described clinic of new disease called progressive lenticular degeneration (lat. Lenticularis lenticular.)The main symptoms of the disease were variety of involuntary movements of the limbs and trunk, muscle rigidity leading to stiffness, dysphagia and dysarthria, affective outbursts, some mental disorders, dementia, but there were no signs of pyramidal lesions. Even earlier, C. Westphal (1883) and A. Shtryumpel (1898) described the disease, which by the clinical similarity to multiple sclerosis was called “pseudosclerosis”. dementia.Later it turned out that progressive lenticular degeneration and pseudosclerosis are different forms of the same disease, which Gall (1921) called HLD. However, changes in the brain with it are never limited to lenticular nuclei and are often even more pronounced in other parts of the brain.In 1960, the Soviet neurologist and neuropathologist Nikolai Konovalov proposed the name “hepato-cerebral dystrophy”, significantly expanded his understanding of the pathophysiology, pathogenesis and clinic of this disease and identified 4 forms of damage to the nervous system and one abdominal.Conclusion: Many authors contributed to HLD description during last 150 years. Their priority has to be recognized.
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Scientific Description of the Hepato-Lenticular Degenerationстатья

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