Genotype-phenotype correlations in spastic paraplegia type 7: A study in a large Dutch cohort

Brain

Volumn 135, Issue 10, 2012, Pages 2994-3004

  Van Gassen, Koen L I ^a   Van Der Heijden, Charlotte D C C ^a   De Bot, Susanne T ^a   Den Dunnen, Wilfred F A ^b   Van Den Berg, Leonard H ^c   Verschuuren Bemelmans, Corien C ^b   Kremer, H P H ^b   Veldink, Jan H ^c   Kamsteeg, Erik Jan ^a   Scheffer, Hans ^a   Van De Warrenburg, Bart P ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

Author keywords

ataxia; genotype; paraplegia; phenotype; spasticity

Indexed keywords

ALANINE; GLUTAMINE; GLYCINE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ADOLESCENT; ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; ATAXIA; CELL ACTIVITY; CEREBELLAR ATAXIA; CEREBELLUM DEGENERATION; CERVICAL DYSTONIA; CHILD; EXON; FEMALE; GAZE PARALYSIS; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NERVE DEGENERATION; NETHERLANDS; NULL MUTATION; ONSET AGE; OPTIC NERVE; OPTIC NERVE ATROPHY; PRIORITY JOURNAL; PROTEIN FUNCTION; PTOSIS; SCHOOL CHILD; SPASTIC PARAPLEGIA; SPASTIC PARAPLEGIA 7 GENE; SPINAL CORD; VISUAL IMPAIRMENT;

EID: 84867714045     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws224     Document Type: Article

References (24)

1. Alexander C, Votruba M, Pesch UE, Thiselton DL, Mayer S, Moore A, et al. OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat Genet 2000; 26: 211-5.
2. Arnoldi A, Tonelli A, Crippa F, Villani G, Pacelli C, Sironi M, et al. A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat 2008; 29: 522-31.
3. Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, et al. Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia. J Cell Biol 2003; 163: 777-87.
4. Bonn F, Pantakani K, Shoukier M, Langer T, Mannan AU. Functional evaluation of paraplegin mutations by a yeast complementation assay. Hum Mutat 2010; 31: 617-21.
5. Brugman F, Scheffer H, Wokke JH, Nillesen WM, de Visser M, Aronica E, et al. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes. Neurology 2008; 71: 1500-5.
6. Casari G, De Fusco M, Ciarmatori S, Zeviani M, Mora M, Fernandez P, et al. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell 1998; 93: 973-83.
7. Casari G, Marconi R. Spastic Paraplegia 7. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews. 1993-2006, http://www.ncbi.nlm.nih.gov/ books/NBK1107/August 24 [updated December 23, 2010].
8. Dawson TP, Neal JW, Llewellyn L, Thomas C. Chapters 6, 8 and 9. In: Dawson TP, Neal JW, Llewellyn L, Thomas C, editors. Neuropathology techniques. London: Hodder Arnold Publishers; 2003.
9. De Bot ST, Willemsen MAAP, Vermeer S, Kremer HPH, van de Warrenburg BP. Reviewing the genetic causes of spastic ataxia. Neurology; in press.
10. Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, et al. Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28. Nat Genet 2010; 42: 313-21.
11. Dubowitz V, Sewry CA. Chapters 1 and 2. Muscle Biopsy; a practical approach. 3rd edn. Oxford: Saunders Elsevier; 2007.
12. Elleuch N, Depienne C, Benomar A, Hernandez AM, Ferrer X, Fontaine B, et al. Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia. Neurology 2006; 66: 654-9.
13. Ferreirinha F, Quattrini A, Pirozzi M, Valsecchi V, Dina G, Broccoli V, et al. Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport. J Clin Invest 2004; 113: 231-42.
14. Harding AE. Classification of the hereditary ataxias and paraplegias. Lancet 1983; 1: 1151-5.
15. Koppen M, Langer T. Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases. Crit Rev Biochem Mol Biol 2007; 42: 221-42.
16. Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, et al. Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration. Hum Mol Genet 2009; 18: 2001-13.
17. McDermott CJ, Dayaratne RK, Tomkins J, Lusher ME, Lindsey JC, Johnson MA, et al. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology 2001; 56: 467-71.
18. Olah M, Raj D, Brouwer N, De Haas AH, Eggen BJ, Den Dunnen WF, et al. An optimized protocol for the acute isolation of human microglia from autopsy brain samples. Glia 2012; 60: 96-111.
19. Schlipf NA, Schüle R, Klimpe S, Karle KN, Synofzik M, Schicks J, et al. Amplicon based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients. Clin Genet 2011; 80: 148-60.
20. Seidel K, den Dunnen WF, Schultz C, Paulson H, Frank S, de Vos RA, et al. Axonal inclusions in spinocerebellar ataxia type 3. Acta Neuropathol 2010; 120: 449-60.
21. Seidel K, Vinet J, den Dunnen WF, Brunt ER, Meister M, Boncoraglio A, et al. The HSPB8-BAG3 chaperone complex is upregulated in astrocytes in the human brain affected by protein aggregation diseases. Neuropathol Appl Neurobiol 2012; 38: 39-53.
22. Strümpell A. Die primäre Seitenstrangsklerose (spastische Spinalparalyse). J Neurol 1904; 27: 291-339.
23. Warnecke T, Duning T, Schirmacher A, Mohammadi S, Schwindt W, Lohmann H, et al. A novel splice site mutation in the SPG7 gene causing widespread fiber damage in homozygous and heterozygous subjects. Mov Disord 2010; 25: 413-20.
24. Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, et al. Multi-system neurological disease is common in patients with OPA1 mutations. Brain 2010; 133: 771-86.