Condition: Spastic paraplegia 11, autosomal recessive


rs1085307097 in SPG11 gene and Spastic paraplegia 11, autosomal recessive PMID 17322883 2007 Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

PMID 23443022 2013 Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients.

PMID 18717728 2008 Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

PMID 26556829 2016 ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.

PMID 20110243 2010 SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis.

PMID 19105190 2009 Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion.

PMID 22154821 2012 Exome sequencing reveals SPG11 mutations causing juvenile ALS.

PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.

PMID 22175763 2012 Atypical hereditary spastic paraplegia with thin corpus callosum in a Korean patient with a novel SPG11 mutation.

PMID 18079167 2008 Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

PMID 18067136 2007 Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia.

PMID 17717710 2007 SPG11: a consistent clinical phenotype in a family with homozygous spatacsin truncating mutation.

PMID 18835492 2008 Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.

PMID 24833714 2014 Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

PMID 18332254 2008 Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.

PMID 19438933 2009 Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

PMID 22696581 2012 White and grey matter abnormalities in patients with SPG11 mutations.

PMID 27071356 2016 High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles.

PMID 22237444 2012 Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations.

PMID 19196735 2009 Point mutations and a large intragenic deletion in SPG11 in complicated spastic paraplegia without thin corpus callosum.

PMID 18337587 2008 SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia.

PMID 20390432 2010 Novel SPG11 mutations in Asian kindreds and disruption of spatacsin function in the zebrafish.

PMID 27217339 2016 Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

PMID 27084228 2016 Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.

PMID 28554332 2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.

rs200079802 in SPG11;EIF3J gene and Spastic paraplegia 11, autosomal recessive PMID 19194956 2009 SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration.