[Hepatocerebral degeneration]. 1991

T Babić, and M Relja
Neuroloska klinika sa Zavodom za neuropatologiju Medicinskog fakulteta Sveucilista u Zagrebu.

Hepatocerebral degeneration is a hereditary copper metabolic disorder caused by yet unknown pathological process in the 13th chromosome. The disease is more frequent than is usually believed and has systemic characteristics, although the central nervous system and liver are most often affected. The authors describe 35 patients with neurological form of the disease (mean age 29.3 +/- 1.9 years; mean duration of the disease 3.8 +/- 1.7 years). The most frequent symptoms of these patients are dysarthria (88.6%), tremor (85.7%) and rigidity (80%), while elevated liver copper concentration (97.1%) presents the most frequent biochemical disorder of the copper metabolism. Contrary to common opinion about the pathognomy of Kayser-Fleischer ring, its existence is confirmed in only 60% of the patients. On the basis of the author's own results, along with the reference to already described data from literature, the authors give a survey of current knowledge about hepatocerebral degeneration.

UI MeSH Term Description Entries
D006527 Hepatolenticular Degeneration A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years. Cerebral Pseudosclerosis,Neurohepatic Degeneration,Pseudosclerosis,Wilson Disease,Copper Storage Disease,Hepatic Form of Wilson Disease,Hepato-Neurologic Wilson Disease,Hepatocerebral Degeneration,Hepatolenticular Degeneration Syndrome,Kinnier-Wilson Disease,Progressive Lenticular Degeneration,Westphal-Strumpell Syndrome,Wilson Disease, Hepatic Form,Wilson's Disease,Cerebral Pseudoscleroses,Copper Storage Diseases,Degeneration Syndrome, Hepatolenticular,Degeneration Syndromes, Hepatolenticular,Degeneration, Hepatocerebral,Degeneration, Hepatolenticular,Degeneration, Neurohepatic,Degeneration, Progressive Lenticular,Degenerations, Hepatocerebral,Degenerations, Neurohepatic,Disease, Copper Storage,Diseases, Copper Storage,Diseases, Hepato-Neurologic Wilson,Diseases, Kinnier-Wilson,Hepato Neurologic Wilson Disease,Hepato-Neurologic Wilson Diseases,Hepatocerebral Degenerations,Hepatolenticular Degeneration Syndromes,Kinnier Wilson Disease,Kinnier-Wilson Diseases,Lenticular Degeneration, Progressive,Neurohepatic Degenerations,Pseudoscleroses, Cerebral,Pseudosclerosis, Cerebral,Storage Disease, Copper,Storage Diseases, Copper,Syndrome, Hepatolenticular Degeneration,Syndromes, Hepatolenticular Degeneration,Westphal Strumpell Syndrome,Westphal-Strumpell Syndromes,Wilson Disease, Hepato-Neurologic,Wilson Diseases, Hepato-Neurologic,Wilsons Disease
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man

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