Recombinant Human Spatacsin (SPG11), partial

1. increased levels of homocarnosine do not seem to be a biomarker for SPG11 in our patients PMID: 29732542
2. SPG11 was suspected to be the most common subtype of autosomal recessive hereditary spastic paraplegia in China, whereas SPG15, SPG5 or SPG7 are rare. The core symptoms of Chinese SPG11 patients showed no difference when compared to SPG11 in western countries, and clinical heterogeneity also existed in our SPG11 patients. PMID: 28933964
3. Screening of large cohorts of hereditary spastic paraplegia (HSP) patients identified 83 alleles with "small" mutations and 13 alleles with large genomic rearrangements. These findings widen the spectra of mutations and mutational mechanisms in SPG11, underscore the pivotal role played by Alu elements, and are of high diagnostic relevance for a wide spectrum of clinical phenotypes including the most frequent form of HSP. PMID: 27071356
4. These hereditary spastic paraplegia patients are compound heterozygous for variants in the SPG11 gene, including the paternally inherited c.6856C>T (p.Arg2286 *) variant and the novel maternally inherited c.2316+5G>A splice-donor region variant. PMID: 27900367
5. SPG11 and CYP7B1 were the most common cause of autosomal recessive hereditary spastic paraplegia in Greece. A novel variant in SPG11, which led to disease with later onset was identified in the Greek population. PMID: 26374131
6. SPG11 defects were found to be by far the commonest cause of complex hereditary spastic paraplegia in the UK, accounting for 30.9% of cases. PMID: 27217339
7. This study identified novel compound heterozygous mutations in SPG11 in a complex hereditary spastic paraplegia family with thin corpus callosum and severe axonal sensory-motor polyneuropathy as a late manifestation of the disease. PMID: 27544499
8. We identified two novel compound heterozygous mutations in SPG11 in 2 affected individuals with autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum PMID: 27256065
9. a novel homozygous mutation in the splice site donor of intron 30 (c.5866+1G>A) in consanguineous Japanese SPG11 siblings showing late-onset spastic paraplegia (whole-exome sequencing) PMID: 26671123
10. SPG11 is the causative gene of a wide spectrum of clinical features, including autosomal recessive axonal Charcot-Marie-Tooth disease. 1 PMID: 26556829
11. novel compound heterozygous mutations in SPG11 are associated with HSP and lower motor neuron involvement, mild cerebellar signs and dysgenesis of the corpus callosum PMID: 26003865
12. SPG11 mutation has been identified in a Turkish familial hypobetalipoproteinemia family with hereditary spastic paraplegia. PMID: 25769290
13. spastizin and spatacsin were essential components for the initiation of lysosomal tubulation. Together, these results link dysfunction of the autophagy/lysosomal biogenesis machinery to neurodegeneration. PMID: 25365221
14. Study provides evidence that SPG11 is implicated in axonal maintenance and cargo trafficking. PMID: 24794856
15. A novel homozygous nonsense mutation in exon 15 of the SPG11 gene (c.2678G>A; p.W893X) found in two Spanish siblings with a complicated forms of hereditary spastic paraplegia. PMID: 23438842
16. widespread accumulation of spatacsin observed in pathologic alpha-synuclein-containing inclusions suggests that spatacsin may be involved in the pathogenesis of alpha-synucleinopathies PMID: 24112408
17. We have identified an Hereditary spastic paraplegia patient who inherited the c.5121_5122insAG mutation from his mother and the c.6859C>T mutation from his father PMID: 24315199
18. This study identified novel compound heterozygous mutations in the SPG11 gene of the patients as follows: a nonsense mutation c.6856C>T (p.R2286X) in exon 38 and a deletion mutation c.2863delG (p.Glu955Lysfs*8) in exon 16. PMID: 24090761
19. SPG11 mutations were identified in autosomal recessive juvenile Amyotrophic lateral sclerosis. PMID: 24085347
20. We propose AP-5, SPG15, SPG11 form a coat-like complex, with AP-5 involved in protein sorting, SPG15 facilitating docking of the coat onto membranes by interacting with PI3P via its FYVE domain, and SPG11 (possibly together with SPG15) forming a scaffold. PMID: 23825025
21. There was a characteristic gradation in the reduction of microstructural integrity among fiber types and within the CC in patients with the SPG11 mutation PMID: 23221952
22. This study widens the spectrum of mutations in SPG11 PMID: 23121729
23. The analysis shows that the high number of repeated elements in SPG11 together with the presence of recombination hotspots and the high intrinsic instability of the 15q locus all contribute toward making this genomic region more prone to large gene rearrangements. PMID: 22237444
24. This study confirms heterogeneity amongst Italian families with hereditary spastic paraplegia/thin corpus callosum and reports a new mutation predicted to affect splicing in the spatacsin gene. PMID: 19087158
25. mutations result in white and grey matter abnormalities PMID: 22696581
26. This study confirmed that SPG11 as a genetic cause of juvenile amyotrophic lateral sclerosis and indicate that SPG11 mutations could be associated with 2 different clinical phenotypes within the same family. PMID: 22154821
27. SPG11, the most frequent gene associated with hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) encodes spatacsin, demonstrating the extensive genetic heterogeneity of this condition. PMID: 21440262
28. Spatacsin was strongly expressed in cortical and spinal motor neurons and in embryos. It partially co-localized with multiple organelles, particularly with protein-trafficking vesicles, endoplasmic reticulum and microtubules. PMID: 21545838
29. Data support the importance of SPG11 as a frequent cause for ARHSP-TCC, and expands the clinical SPG11 spectrum. PMID: 20971220
30. Retinal changes, an integral part of SPG11 mutations in this series of patients, are only observed once the paraplegia has become apparent. PMID: 21035867
31. analysis of SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish PMID: 20390432
32. We identified genetic deficits in spatacsin that were associated with Levodopa responsive parkinsonism with pyramidal signs. PMID: 20669327
33. Up to 12 sequence alterations in the spatacsin gene have been identified in unrelated pedigrees with autosomal recessive juvenile amyotrophic lateral sclerosis. PMID: 20110243
34. mutations in the SPG11 gene causes spastic paraplegia with thin corpus callosum PMID: 17322883
35. Frameshift, nonsense mutations, and splice mutations in SPG11. Mutations are major cause of autosomal recessive hereditary spastic paraplegia with thin corpus callosum associated with severe motor and cognitive impairment. PMID: 18067136
36. The study reveals the high frequency of SPG11 mutations in patients with HSP, a TCC and cognitive impairment, including in isolated patients, and extends the associated phenotype. PMID: 18079167
37. Autosomal recessive HSP-TCC is a frequent subtype of complicated HSP in Tunisia and is clinically and genetically heterogeneous. SPG11 and SPG15 are the major loci for this entity. PMID: 18332254
38. Mutations on KIAA1840 are frequent in complex autosomal recessive hereditary spastic paraplegia, but they are an infrequent cause of sporadic complex hereditary spastic paraplegia. PMID: 18337587
39. Mutations of the SPG11 gene encoding the spatacsin protein have been identified as a major cause of hereditary spastic paraplegia. PMID: 18361476
40. Genetic and phenotypic data on five patients from two Taiwanese/Chinese families with ARHSP-TCC. PMID: 18408091
41. SPG11 mutations should be suspected in patients with isolated or recessive HSP, thin corpus callosum and mental retardation. PMID: 18439221
42. Loss-of-function SPG11 mutations are the major cause of autosomal recessive hereditary spastic paraparesis with thin corpus callosum in Southern Europe, even in apparently sporadic cases. PMID: 18663179
43. 5 new spatacsin mutations were found in complex autosomal recessive hereditary spastic paraplegia:p.C133LfsX154, p.Q1875X, p.K2386QfsX2393,c.2834 + 1G > T & c.6754 + 4insTG. PMID: 18717728
44. This study widens the mutation spectrum of the SPG11 gene and the mutations in the SPG11 gene are also the major causative gene for HSP-TCC in the Chinese Hans. PMID: 18835492
45. Abnormal MRI signal in the region of the forceps minor of the corpus callosum is a characteristic early imaging finding of HSP-TCC with SPG11 mutations. PMID: 19040626
46. ZFYVE26 is the second gene responsible for spastic paraplegia with thinning of the corpus callosum in the Italian population PMID: 19084844
47. While expanding the spectrum of mutations in SPG11, this larger series also corroborated the notion that even within apparently homogeneous population a molecular diagnosis cannot be achieved without full gene sequencing. PMID: 19105190
48. Degeneration of the central retina is a common and previously unrecognized feature in SPG11 related disease. PMID: 19194956
49. Findings expand the mutation spectrum of SPG11 and suggest that SPG11 mutations may occur more frequently in familial than sporadic forms of cHSP without TCC. PMID: 19196735
50. Evidence that parkinsonism may initiate SPG11-linked HSP TCC and that SPG11 may cause juvenile parkinsonism. PMID: 19224311

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HGNC: 11226

OMIM: 602099

KEGG: hsa:80208

STRING: 9606.ENSP00000261866

UniGene: Hs.656271