Abstract
Adult Refsum disease (ARD) was first described in 1946 as heredopathia atactica polyneuritiformis. The disorder was later shown to be an inborn error of lipid metabolism, peroxisomal in origin, that results in high levels of plasma phytanic acid (PhyAc) and is associated with a combination of retinitis pigmentosa (RP), peripheral polyneuropathy and cerebellar ataxia. There are characteristic CSF changes.
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Leroy, B.P. (2014). Adult Refsum Disease (ARD). In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_24
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DOI: https://doi.org/10.1007/978-3-540-69466-3_24
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