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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].


  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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