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ABN Spring Scientific Meeting Homerton College, Cambridge, UK, 11–13 April 2007
001 WHEN AND HOW SHOULD NEUROLOGISTS TEST FOR MUTATIONS IN POLG?
P. F. Chinnery, G. Hudson, J. Stewart, K. Craig, R. W. Taylor, D. M. Turnbull, V. Ramesh, R. McFarland, D. J. Burn, M. G. Hanna, R. Horvath, H. Lochmueller, M. Zeviani.Newcastle University and Newcastle Hospitals NHS Trust, Newcastle, UK; University College London, London, UK; Friedrich-Baur-Institute, Munich, Germany; Carlo Besta Institute, Milan, Italy
The production of adenosine triphosphate by mitochondrial oxidative phosphorylation is critically dependent on the structural integrity of the mitochondrial genome (mtDNA). mtDNA codes for 13 respiratory chain proteins which combine with over 70 nuclear subunits to form the final common pathway for energy metabolism. Until recently, it was thought that primary mtDNA mutations were the major cause of mitochondrial disease in adults, but an emerging class of autosomal mitochondrial diseases account for a rapidly growing clinical group: disease caused by mutations in POLG. POLG codes for the mitochondrial DNA polymerase g (polg), and POLG mutations cause disease through a secondary effect on mtDNA.
Here we present clinical and molecular data on more than 70 patients with POLG mutations. Although some developed classic features of mitochondrial disease, a large proportion had a common neurological disorder as the only feature for many years, including migraine, epilepsy, ataxia and parkinsonism. Some were identified through a systematic screen of spinocerebellar ataxia referrals, while others fulfilled diagnostic criteria for idiopathic Parkinson disease. Not all patients had abnormal muscle histochemistry, and multiple mtDNA deletions were not always detected in muscle. This presents a major diagnostic challenge, and referral for genetic testing ultimately depends on clinical intuition.
002 ADDENBROOKE’S COGNITIVE EXAMINATION-REVISED IN DAY TO DAY CLINICAL PRACTICE
A. J. Larner.Cognitive Function Clinic, Walton Centre for Neurology and Neurosurgery, Liverpool, UK
Objective: To report the diagnostic accuracy of the Addenbrooke’s Cognitive Examination-Revised (ACE-R).
Methods/setting: Pragmatic prospective study of consecutive new referrals to a regional neuroscience centre, Cognitive Function Clinic, Liverpool, UK.
Results: Of 100 …
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