Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations

Muscle and Nerve

Volumn 41, Issue 6, 2010, Pages 882-885

  Weiss, Michael D ^a   Saneto, Russell P ^b  

^a UNIVERSITY OF WASHINGTON MEDICAL CENTER   (United States)

^b SEATTLE CHILDREN S HOSPITAL   (United States)

Author keywords

Dysarthria; Mitochondrial myopathy; Polymerase ; Progressive external ophthalmoplegia; Sensory ataxic neuropathy

Indexed keywords

ACTION POTENTIAL; AGED; ARTICLE; ATAXIA; CASE REPORT; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DYSARTHRIA; ELECTROMYOGRAPHY; HETEROZYGOSITY; HUMAN; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; OPHTHALMOPLEGIA; PRIORITY JOURNAL; SENSORY NERVE; SENSORY NEUROPATHY;

AGED, 80 AND OVER; ATAXIA; DIPLOPIA; DNA, MITOCHONDRIAL; DNA-DIRECTED DNA POLYMERASE; DYSARTHRIA; EYELID DISEASES; HUMANS; MALE; MUSCLE, SKELETAL; MUSCULAR ATROPHY; MUTATION, MISSENSE; OPHTHALMOPLEGIA; OPHTHALMOPLEGIA, CHRONIC PROGRESSIVE EXTERNAL; SEQUENCE DELETION; VOICE DISORDERS;

EID: 77953069203     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21636     Document Type: Article

References (21)

1. Longley MJ, Graziewicz MA, Bienstock RJ, Copeland MC. Consequences of mutations in human DNA polymerase c. Gene 2005;354:125-131. (Pubitemid 41116691)
2. Wong LJ, Naviaux RK, Brunetti-Pierri N, Zhang Q, Schmitt ES, Truong C, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008;29:E150-E172.
3. Gago MF, Rosas MJ, Guimaraes J, Ferreira M, Vilarinho L, Castro L, et al. SANDO: two novel mutations in POLG1 gene. Neuromuscul Disord 2006;16:507-509. (Pubitemid 44332924)
4. Milone M, Brunetti-Pierri N, Tang L-Y, Kumar N, Mezei MM, Josephs K, et al. Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations. Neuromuscul Disord 2008;18:626-632
5. Naïmi M, Bannwarth S, Procaccio V, Pouget J, Desnuelle C, Pellissier JF, et al. Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay. Eur J Hum Genet 2006;14:917-922. (Pubitemid 44111629)
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;63:1251-1257. (Pubitemid 39350026)
7. Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, et al. Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia. Neuromuscul Disord 2003;13:133-142. (Pubitemid 36140008)
8. Winterthun S, Ferrari G, He L, Taylor RW, Zeviani M, Turnbull DM, et al. Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase γ mutations. Neurology 2005;64:1204-1208. (Pubitemid 40490519)
9. Farrugia ME, Kennett RP. Turns amplitude analysis of the orbicularis oculi and oris muscles. Clin Neurophysiol 2005;116:2550-2559.
10. Rivner MH, Swift TR, Malik K. Influence of age and height on nerve conduction. Muscle Nerve 2001;24:1134-1141. (Pubitemid 32762140)
11. Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology 2002;59:1406-1411. (Pubitemid 35285995)
12. Rifai Z, Welle S, Kamp C, Thornton CA. Ragged red fibers in normal aging and inflammatory myopathy. Ann Neurol 1995;37:24-29.
13. Kollberg G, Jansson M, Perez-Bercoff A, Melberg A, Lindberg C, Holme E, et al. Low frequency of mtDNA point mutations in patients with PEO associated with POLG1 mutations. Eur J Hum Genet 2005;13:463-466. (Pubitemid 40520937)
14. Hudson G, Schaefer AM, Taylor RW, Tiangyou W, Gibson A, Venables G, et al. Mutation of the linker region of the polymerase γ-1 (POLG1) gene associated with progressive external ophthalmoplegia and parkinsonism. Arch Neurol 2007;64:553-557. (Pubitemid 46588345)
15. Agostino A, Valletta L, Chinnery PF, Ferrari G, Carrara F, Taylor RW, et al. Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). Neurology 2003;60:1354-1356.
16. Filosto M, Mancuso M, Nishigaki Y, et al. Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase γ. Arch Neurol 2003;60:1279-1284. (Pubitemid 37099636)
17. Gonzalez-Vioque E, Blazquez A, Fernandez-Moreira D, Fernández- Moreira D, Bornstein B, Bautista J, et al. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. Arch Neurol 2006;63:107-111. (Pubitemid 43063868)
18. Tzoulis C, Engelsen BA, Telstad W, Aasly J, Zeviani M, Winterthun S, 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. (Pubitemid 43999403)
19. Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001;28:211-212. (Pubitemid 32626018)
20. Horvath R, Hudson G, Ferrari G, Futterer N, Ahola S, Lamantea E, et al. Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene. Brain 2006;129:1674-1684. (Pubitemid 43999402)
21. Fadic R, Russell JA, Vedanarayanan VV, Lehar M, Kuncl RW, Johns DR. Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease. Neurology 1997;49:239-245. (Pubitemid 27328708)