Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy

Journal of Neurology

Volumn 255, Issue 7, 2008, Pages 1079-1080

  Cagnoli, C ^a   Brussino, A ^a   Di Gregorio, E ^a   Caroppo, P ^b   Stola, S ^b   Dragone, E ^b   Ferrone, M ^a   Padovan, S ^c   Migone, N ^a,b   Orsi, L ^b   Brusco, A ^a,b  

^a UNIVERSITY OF TURIN   (Italy)

^b MOLINETTE HOSPITAL   (Italy)

^c CNR   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA DIRECTED DNA POLYMERASE GAMMA;

ADOLESCENT; ADULT; AGED; ATAXIA; AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; CEREBELLAR ATAXIA; CHILD; DEGENERATIVE DISEASE; DYSARTHRIA; DYSPHAGIA; FEMALE; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; ITALY; LETTER; MAJOR CLINICAL STUDY; MALE; MITOCHONDRIAL AUTOSOMAL RECESSIVE ATAXIA SYNDROME; MITOCHONDRIAL GENE; MUTATIONAL ANALYSIS; ONSET AGE; OPHTHALMOPLEGIA; PHENOTYPE; POLG1 GENE; POLYNEUROPATHY; PRIORITY JOURNAL; PTOSIS; WEAKNESS;

ADOLESCENT; ADULT; AGED; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; DNA-DIRECTED DNA POLYMERASE; FEMALE; HUMANS; ITALY; MALE; MIDDLE AGED; MUTATION;

EID: 50049104456     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-008-0772-3     Document Type: Letter

References (9)

1. Craig K, Ferrari G, Tiangyou W, Hudson G, Gellera C, Zeviani M, Chinnery PF (2007) The A467T and W748S POLG substitutions are a rare cause of adultonset ataxia in Europe. Brain 130:E69; author reply E70
2. Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M (2005) Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. Brain 128:723-731
3. Gago MF, Rosas MJ, Guimaraes J, Ferreira M, Vilarinho L, Castro L, Carpenter S (2006) SANDO: two novel mutations in POLG1 gene. Neuromuscul Disord 16:507-509
4. Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A (2005) Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet 77:430-441
5. Lee YC, Lu YC, Chang MH, Soong BW (2007) Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan. J Neurol Sci 254:65-68
6. Longley MJ, Graziewicz MA, Bienstock RJ, Copeland WC (2005) Consequences of mutations in human DNA polymerase gamma. Gene 354:125-131
7. Mancuso M, Filosto M, Bellan M, Liguori R, Montagna P, Baruzzi A, DiMauro S, Carelli V (2004) POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness. Neurology 62:316-318
8. Van Goethem G, Martin JJ, Dermaut B, Lofgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C (2003) Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 13:133-142
9. Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, Engelsen BA, Moen G, Bindoff LA (2005) Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology 64:1204-1208