Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: Making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia

Internal Medicine

Volumn 52, Issue 14, 2013, Pages 1629-1633

  Doi, Hiroshi ^a   Ohba, Chihiro ^a   Tsurusaki, Yoshinori ^a   Miyatake, Satoko ^a   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Kawamoto, Yuko ^a   Yoshida, Tamaki ^a   Koyano, Shigeru ^a   Suzuki, Yume ^a   Kuroiwa, Yoshiyuki ^a   Tanaka, Fumiaki ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

Author keywords

Cerebellar ataxia; Exome; Paraplegin; Spastic paraplegia; SPG7

Indexed keywords

ADULT; ARTICLE; ATAXIA; CASE REPORT; CEREBELLAR ATAXIA; COGNITIVE DEFECT; EXOME; FRAMESHIFT MUTATION; GENE; GENE MUTATION; GENE SEQUENCE; HUMAN; MALE; MUSCLE WEAKNESS; SPASTIC PARAPLEGIA; SPG7 GENE;

ASIAN CONTINENTAL ANCESTRY GROUP; EXOME; HOMOZYGOTE; HUMANS; INTELLECTUAL DISABILITY; MALE; METALLOENDOPEPTIDASES; MIDDLE AGED; MUSCLE SPASTICITY; MUTATION; OPTIC ATROPHY; PARAPLEGIA; PEDIGREE; SEQUENCE ANALYSIS, DNA; SPASTIC PARAPLEGIA, HEREDITARY; SPINOCEREBELLAR ATAXIAS;

EID: 84880178683     PISSN: 09182918     EISSN: 13497235     Source Type: Journal    
DOI: 10.2169/internalmedicine.52.0252     Document Type: Article

References (22)

1. Palau F, Espinos C. Autosomal recessive cerebellar ataxias. Or-phanet J Rare Dis 1: 47, 2006.
2. Manto M, Marmolino D. Cerebellar ataxias. Curr Opin Neurol 22: 419-429, 2009.
3. Vermeer S, Hoischen A, Meijer RP, et al. Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mu-tations in patients with autosomal-recessive cerebellar ataxia. Am J Hum Genet 87: 813-819, 2010.
4. Blackstone C, O'Kane CJ, Reid E. Hereditary spastic paraplegias: membrane traffic and the motor pathway. Nat Rev Neurosci 12: 31-42, 2011.
5. Erlich Y, Edvardson S, Hodges E, et al. Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis. Genome Res 21: 658-664, 2011.
6. Alazami AM, Adly N, Al Dhalaan H, Alkuraya FS. A nullimor-phic ERLIN2 mutation defines a complicated Hereditary Spastic Paraplegia locus (SPG18). Neurogenetics 12: 333-336, 2011.
7. Casari G, De Fusco M, Ciarmatori S, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 93: 973-983, 1998.
8. Warnecke T, Duning T, Schwan A, Lohmann H, Epplen JT, Young P. A novel form of autosomal recessive hereditary spastic paraple-gia caused by a new SPG7 mutation. Neurology 69: 368-375, 2007.
9. van Gassen KL, van der Heijden CD, de Bot ST, et al. Genotype-phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort. Brain 135: 2994-3004, 2012.
10. Klebe S, Depienne C, Gerber S, et al. Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain 135: 2980-2993, 2012.
11. Elleuch N, Depienne C, Benomar A, et al. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 66: 654-659, 2006.
12. Schlipf NA, Schule R, Klimpe S, et al. Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet 80: 148-160, 2011.
13. Arnoldi A, Tonelli A, Crippa F, et al. A clinical, genetic, and bio-chemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 29: 522-531, 2008.
14. Tzoulis C, Denora PS, Santorelli FM, Bindoff LA. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene. J Neurol 255: 1142-1144, 2008.
15. Wilkinson PA, Crosby AH, Turner C, et al. A clinical, genetic and biochemical study of SPG7 mutations in hereditary spastic para-plegia. Brain 127: 973-980, 2004.
16. Tsuji S, Onodera O, Goto J, Nishizawa M; Study Groupon Ataxic D. Sporadic ataxias in Japan: a population-based epidemiological study. Cerebellum 7: 189-197, 2008.
17. Takiyama Y, Ishiura H, Shimazaki H, et al. Japan spastic paraple-gia research consortium (JASPAC). Rinsho Shinkeigaku 50: 931-934, 2010 (in Japanese, Abstract in English).
18. Majewski J, Wang Z, Lopez I, et al. A new ocular phenotype as-sociated with an unexpected but known systemic disorder and mu-tation: novel use of genomic diagnostics and exome sequencing. J Med Genet 48: 593-596, 2011.
19. Tsurusaki Y, Osaka H, Hamanoue H, et al. Rapid detection of a mutation causing X-linked leucoencephalopathy by exome se-quencing. J Med Genet 48: 606-609, 2011.
20. Bonn F, Pantakani K, Shoukier M, Langer T, Mannan AU. Func-tional evaluation of paraplegin mutations by a yeast complementa-tion assay. Hum Mutat 31: 617-621, 2010.
21. Brugman F, Scheffer H, Wokke JH, et al. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 71: 1500-1505, 2008.
22. McDermott CJ, Dayaratne RK, Tomkins J, et al. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in north-east England. Neurology 56: 467-471, 2001.