Mitochondrial recessive ataxia syndrome mimicking dominant spinocerebellar ataxia

Journal of the Neurological Sciences

Volumn 315, Issue 1-2, 2012, Pages 160-163

  Palin, Eino J H ^a   Hakonen, Anna H ^a   Korpela, Mari ^b   Paetau, Anders ^b   Suomalainen, Anu ^a,b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

Author keywords

MIRAS; mtDNA; POLG; Spinocerebellar ataxia

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA; MITOCHONDRIAL DNA; POLG1 PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; ATAXIA; CASE REPORT; DNA DETERMINATION; DOMINANT INHERITANCE; FATHER; FEMALE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC SUSCEPTIBILITY; HETEROZYGOTE; HISTOLOGY; HUMAN; HUMAN TISSUE; MALE; MITOCHONDRIAL RECESSIVE ATAXIA SYNDROME; NEUROPATHOLOGY; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

ADULT; DIAGNOSIS, DIFFERENTIAL; DNA-DIRECTED DNA POLYMERASE; FEMALE; GENES, DOMINANT; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIAL DISEASES; SPINOCEREBELLAR ATAXIAS;

EID: 84858002050     PISSN: 0022510X     EISSN: 18785883     Source Type: Journal    
DOI: 10.1016/j.jns.2011.11.028     Document Type: Article

References (15)

1. Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol 2010;9:885-94.
2. Fogel B, Perlman S. An approach to the patient with late-onset cerebellar ataxia. Nat Clin Pract Neurol 2006;2:629-35 quiz 1 p following 35-35.
3. Pandolfo M, Pastore A. The pathogenesis of Friedreich ataxia and the structure and function of frataxin. J Neurol 2009;256(Suppl 1):9-17.
4. Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, et al. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 2005;77: 430-41. (Pubitemid 41192649)
5. Nikali K, Suomalainen A, Saharinen J, Kuokkanen M, Spelbrink JN, Lönnqvist T, et al. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet 2005;14(20):2981-90. (Pubitemid 41535463)
6. Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, et al. POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology 2004;63:1251-7. (Pubitemid 39350026)
7. Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 2005;64:1204-8.
8. Luoma P, Melberg A, Rinne JO, Kaukonen JA, Nupponen NN, Chalmers RM, et al. Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetics study. Lancet 2004;364: 875-82. (Pubitemid 39221065)
9. Hakonen AH, Goffart S, Marjavaara S, Paetau A, Cooper H, Mattila K, et al. Infantile-onset spinocerebellar ataxia and mitochondrial recessive ataxia syndrome are associated with neuronal complex I defect and mtDNA depletion. Hum Mol Genet 2008;17:3822-35.
10. Cagnoli C, Brussino A, Di Gregorio E, Caroppo P, Stola S, Dragone E, et al. Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy. J Neurol 2008;255:1079-80.
11. Craig K, Ferrari G, Tiangyou W, Hudson G, Gellera C, Zeviani M, et al. The A467T and W748S POLG substitutions are a rare cause of adult-onset ataxia in Europe. Brain : a journal of neurology 2007;130:E69 author reply E70.
12. Lücking CB, Bonifati V, Periquet M, Vanacore N, Brice A, Meco G. Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations. Neurology 2001;57:924-7. (Pubitemid 32845526)
13. Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, et al. A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes. Archives of Neurology 2010;67:239-44.
14. Melberg A, Arnell H, Dahl N, Stålberg E, Raininko R, Oldfors A, et al. Anticipation of autosomal dominant progressive external ophthalmoplegia with hypogonadism. Muscle Nerve 1996;19:1561-9. (Pubitemid 26412112)
15. Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, et al. Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 2005;128:723-31. (Pubitemid 40516911)