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• The wider issue of non-Wilsonian movement disorders associated with subnormal or borderline caerulop
  oscar,m jolobe
  Published on: 25 May 2010

• Published on: 25 May 2010

  The wider issue of non-Wilsonian movement disorders associated with subnormal or borderline caerulop

  • oscar,m jolobe, retired geriatrician

  When dealing with movement disorders which are associated with subnormal caeruloplasmin levels, account should be taken, not only of Wilson's disease(as was the case in a recent review)(1) where neurological features are attributable to copper deposition in the basal ganglia(2), but also of acaeruloplasminaemia, where neurological features are attributable to iron deposition in the basal ganglia, thalamus, dentate nucleus, an...

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  When dealing with movement disorders which are associated with subnormal caeruloplasmin levels, account should be taken, not only of Wilson's disease(as was the case in a recent review)(1) where neurological features are attributable to copper deposition in the basal ganglia(2), but also of acaeruloplasminaemia, where neurological features are attributable to iron deposition in the basal ganglia, thalamus, dentate nucleus, and motor cortex(3)(4). Unlike Wilson's disease, where the cardinal feature of the genotype is the occurence of mutations associated with copper-transporting ATPases(3), acaeruloplasminaemia is charcterised by mutations in the caeruloplasmin gene itself(3), with resulting failure of hepatic biosynthesis of the caeruloplasmin precursor apocaeruloplasmin(2). Acaeruloplasminaemia merits inclusion in the differential diagnosis of movement disorders because iron chelator treatment with desferrioxamine has been shown, in at least one instance, to produce a reduction in severity of blepherospasm, grimacing, and rigidity, thereby suggesting that early chelator treatment may prevent or decisively ameliorate neurological symptoms in this disorder(5). Both Wilson's disease and acaeruloplasminaemia have to be distinguished from a third disorder charactrised, this time, by serum caeruloplasmin levels which are either subnormal or at the lower limit of the normal range, in association with movement disorders such as tremor and dystonia(6). By 1993, thirteen such cases had been described. In two instances where investigation included magnetic resonance imaging of the brain, no heavy metal deposition was detected in the basal ganglia(6).

  References:

  (1) Fuller G Hyperkinetic movement disorders: shakes, jumps, and jolts Practical Neurology 2010;10: 114-123

  (2)Miyajima H Genetic disorders affecting proteins of iron and copper metabolism: Clinical implications Internal Medicine 2002;41:762-769

  (3)Miyajima H., Takahashi Y., Kono S Acaeruloplasminaemia, an inherited disorder of iron metabolism Biometals 2003;16:205-213

  (4)Miyajima H., Adachi J., Kohno S., et al Increased oxysterols associated with iron accumulation in the brains and visceral organs of acaeruloplasminaemia patients QJMed 2001;94:417-422

  (5)Miyajima H., Takahashi Y., Kamata T et al Use of desferrioxamine in the treatment of aceruloplasminemia Ann Neurol 1997;41:404-407

  (6) Wierzbicki AS., Patel N., Evans K., Lascelles PT Copper-64 metabolism in two patients with non-Wilsonian movement disorders and copper deficiency J Neurological Sciences 1993;119:84-90

  Conflict of Interest:

  None declared

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  Conflict of Interest:
  None declared.

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