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Gene Review

SPG9  -  spastic paraplegia 9 (autosomal dominant)

Homo sapiens

 
 
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Disease relevance of SPG9

 

High impact information on SPG9

  • In this study, we performed linkage analysis on an autosomal recessive pure HSP family and mapped the disease to chromosome 10q22.1-10q24.1, a locus partially overlapping the existing SPG9 locus [2].
  • Finally, analysis of a muscle biopsy specimen from one patient was normal, suggesting that, contrary to SPG7, mitochondrial disturbance could not be a primary feature of SPG9 [3].
  • We typed individuals from this British family using markers located in the SPG9 critical interval and haplotype reconstruction showed the disorder co-segregating with SPG9 [3].
  • To characterise the SPG9 region better, we constructed a contig of 22 YACs, assigned it to 18 polymorphic markers and positioned 54 ESTs [3].
 

Other interactions of SPG9

  • In particular, a gene for partial epilepsy has been assigned to a 3 cM interval between markers D10S185 and D10S577, which is completely included in the SPG9 critical region [1].

References

  1. Genetic heterogeneity in inherited spastic paraplegia associated with epilepsy. Lo Nigro, C., Cusano, R., Gigli, G.L., Forabosco, P., Valente, M., Ravazzolo, R., Diomedi, M., Seri, M. Am. J. Med. Genet. A (2003) [Pubmed]
  2. A novel locus for pure recessive hereditary spastic paraplegia maps to 10q22.1-10q24.1. Meijer, I.A., Cossette, P., Roussel, J., Benard, M., Toupin, S., Rouleau, G.A. Ann. Neurol. (2004) [Pubmed]
  3. A refined physical and transcriptional map of the SPG9 locus on 10q23.3-q24.2. Lo Nigro, C., Cusano, R., Scaranari, M., Cinti, R., Forabosco, P., Morra, V.B., De Michele, G., Santoro, L., Davies, S., Hurst, J., Devoto, M., Ravazzolo, R., Seri, M. Eur. J. Hum. Genet. (2000) [Pubmed]
 
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