Neurochem Res. 2007 Apr-May;32(4-5):837-43. Epub 2006 Dec 21.

Some observations upon biochemical causes of ataxia and a new disease entity ubiquinone, CoQ10 deficiency.

Land JM, Heales SJ, Duncan AJ, Hargreaves IP.

Source

Neurometabolic Unit Box 105, National Hospital for Neurology & Neurosurgery, Queen Square, London, WC1N 3BG, UK. John.Land@uclh.nhs.uk

Abstract

Some hereditary ataxias are treatable and the insight required for this has come from an in depth knowledge of the phenotypes and clinical biochemistry of the conditions. This has required both fundamental and translational clinical research. Prof John Blass was fortunate to begin his career at what we can now recognise as a golden era for such studies and he worked upon two important conditions; Refsum's disease and Friedreich's ataxia. More recently the mitochondrial encephalomyopathies have been described and similar investigative work has been undertaken upon them. Ubiquinone, CoQ(10), deficiency is the most recently recognised encephalomyopathy and is itself treatable. Though rare, it is becoming increasingly recognised and patients are benefiting from the same scholarly approach to its investigation as was afforded Refsums' disease and Friedreich's ataxia.

PMID:: 17186372; [PubMed - indexed for MEDLINE]

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