Dystonia in mitochondrial spinocerebellar ataxia and epilepsy syndrome associated with novel recessive POLG mutations

Movement Disorders

Volumn 27, Issue 1, 2012, Pages 162-163

  Hinnell, Claire ^a   Haider, Salman ^a   Delamont, Shane ^a   Clough, Chris ^a   Hadzic, Nedim ^a   Samuel, Michael ^a,b  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b WILLIAM HARVEY HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; VALPROIC ACID;

ACUTE LIVER FAILURE; ADOLESCENT; BRAIN DISEASE; CASE REPORT; CERVICAL DYSTONIA; CHOREA; CLINICAL EXAMINATION; CLINICAL FEATURE; COGNITIVE DEFECT; DIFFERENTIAL DIAGNOSIS; DYSTONIA; ELECTROENCEPHALOGRAM; ELECTROMYOGRAPHY; FEMALE; GENE MUTATION; GENERALIZED EPILEPSY; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; LEARNING DISORDER; LETTER; LIVER FAILURE; MIGRAINE; MITOCHONDRIAL SPINOCEREBELLAR ATAXIA AND EPILEPSY; MUSCLE BIOPSY; MYOCLONUS; NERVE CONDUCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; RECESSIVE GENE; RESPIRATORY CHAIN;

BRAIN; DNA-DIRECTED DNA POLYMERASE; DYSTONIA; EPILEPSY; FEMALE; HUMANS; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MITOCHONDRIA; MUTATION; SPINOCEREBELLAR ATAXIAS; YOUNG ADULT;

EID: 84855946827     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23960     Document Type: Letter

References (5)

1. Synofzik M, Schule R, Schulte C, et al. Complex hyperkinetic movement disorders associated with POLG mutations. Mov Disord 2010; 25: 2472-2475.
2. Tzoulis C, Engelsen BA, Telstad W, et al. The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases. Brain 2006; 129: 1685-1692.
3. Tzoulis C, Bindoff LA. The syndrome of mitochondrial spinocerebellar ataxia and epilepsy caused by POLG mutations. ACNR 2009; 9: 13-16.
4. Stewart JD, Horvath R, Baruffini E, et al. Polymerase gamma gene POLG determines the risk of sodium valproate-induced liver toxicity. Hepatology 2010; 52: 1791-1796.
5. NIEHS. Mitochondrial DNA replication group. Human DNA polymerase gamma mutation database. Available at: Accessed on: December 2010.