Tremor and deep white matter changes in α-methylacyl-CoA racemase deficiency

@article{Clarke2004TremorAD,
  title={Tremor and deep white matter changes in $\alpha$-methylacyl-CoA racemase deficiency},
  author={C. Clarke and S. Alger and M. Preece and M. Burdon and S. Chavda and S. Denis and S. Ferdinandusse and R. Wanders},
  journal={Neurology},
  year={2004},
  volume={63},
  pages={188 - 189}
}
α-Methylacyl-coenzyme A (CoA) racemase deficiency is a peroxisomal disorder leading to accumulation of pristanate and bile acid intermediates. Of four cases reported, two had adult-onset neuropathy; one had retinitis pigmentosa, epilepsy, migraine, and depression, and the other had pyramidal signs.1,2⇓ Two cases were children: one with Niemann-Pick type C disease,2 and one with vitamin K deficiency.3 We describe another case with tremor, retinitis pigmentosa, and deep white matter MRI changes… Expand
An adult onset case of alpha-methyl-acyl-CoA racemase deficiency
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