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An unusual neurological disorder with abnormal copper metabolism

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Summary

Twin males aged 24 years showed dementia, dysarthria, gait disturbances and involuntary movements, with slightly low levels of serum copper and ceruloplasmin, and markedly low excretion of urinary copper. We propose that the unique combination of dementia, dysarthria, gait disturbances, involuntary movements and abnormalities of copper metabolism does not fit any known nosological entity and constitutes a “new” syndrome different from Wilson's and Menkes' diseases.

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References

  1. Eden A, Green HH (1940) Micro-determination of copper in biological material. Biochem J 34:1202–1205

    Google Scholar 

  2. Godwin-Austen RB, Robinson A, Evans K, Lascelles PT (1978) An unusual neurological disorder of copper metabolism clinically resembling Wilson's disease but biochemically a distinct entity. J Neurol Sci 39:85–98

    Google Scholar 

  3. Haas RH, Chir B, Robinson A, Evans K, Lascelles PT (1981) An X-linked disease of the nervous system with disordered copper metabolism and features differing from Menkes disease. Neurology 31:852–859

    Google Scholar 

  4. Hamamoto K, Tauxe WN, Novak LP, Goldstein NP (1968) Use of whole-body counter to study body retention of radiocopper in Wilson's disease. J Lab Clin Med 72:754–759

    Google Scholar 

  5. Houchin DB (1958) A rapid colorimetric method for the quantitative determination of copper oxidase activity (ceruloplasmin). Clin Chem 4:519–523

    Google Scholar 

  6. Menkes JH, Alter M, Steigleder GK, Weakley DR, Sung JH (1962) A sex-linked recessive disorder with retardation of growth, peculiar hair, and focal cerebral and cerebellar degeneration. Pediatrics 50:764–779

    Google Scholar 

  7. Meret S, Henkin RI (1971) Simultaneous direct estimation by atomic absorption spectrophotometry of copper and zinc in serum, urine and cerebrospinal fluid. Clin Chem 17:369–373

    Google Scholar 

  8. Willvonseder R, Goldstein NP, McCall JT, Yoss RE, Tauxe WN (1973) A hereditary disorder with dementia, spastic dysarthria, vertical eye movement paresis, gait disturbance, splenomegaly and abnormal copper metabolism. Neurology 23:1039–1049

    Google Scholar 

  9. Wilson SAK (1912) Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. Brain 34:295–309

    Google Scholar 

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Ono, S., Kurisaki, H. An unusual neurological disorder with abnormal copper metabolism. J Neurol 235, 397–399 (1988). https://doi.org/10.1007/BF00314480

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  • DOI: https://doi.org/10.1007/BF00314480

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