ArticleAmerican journal of human genetics1999
A new locus for autosomal dominant "pure" hereditary spastic paraplegia mapping to chromosome 12q13, and evidence for further genetic heterogeneity.
Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 101 citations in OpenAlex.
- Targeted plasma proteomics uncover proteins associated with KIF5A-linked SPG10 and ALS spectrum disorders.HGG advances · 2026Article
- A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.Human genome variation · 2025Article
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- Complexity of Generating Mouse Models to Study the Upper Motor Neurons: Let Us Shift Focus from Mice to Neurons.International journal of molecular sciences · 2019Review
- Loss of the Drosophila m-AAA mitochondrial protease paraplegin results in mitochondrial dysfunction, shortened lifespan, and neuronal and muscular degeneration.Cell death & disease · 2018Article
- ER-endosome contact sites: molecular compositions and functions.The EMBO journal · 2015Review
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3.Human genetics · 2007Article
- Hereditary spastic paraplegia.Current neurology and neuroscience reports · 2006Review
- MMP13 mutation causes spondyloepimetaphyseal dysplasia, Missouri type (SEMD(MO).The Journal of clinical investigation · 2005Article
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.Neurogenetics · 2004Article
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.Journal of medical genetics · 2003Review
- A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).American journal of human genetics · 2002Article
- The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.American journal of human genetics · 2001Article
- Hereditary spastic paraparesis: a review of new developments.Journal of neurology, neurosurgery, and psychiatry · 2000Review
- A new locus for autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28.American journal of human genetics · 2000Article
- A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34.American journal of human genetics · 2000Article
- A locus for autosomal dominant "pure" hereditary spastic paraplegia maps to chromosome 19q13.American journal of human genetics · 2000Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
Autosomal dominant pure hereditary spastic paraplegia (ADPHSP) is clinically characterized by slowly progressive lower-limb spasticity. The condition is genetically heterogeneous, and loci have been mapped at chromosomes 2p, 8q, 14q, and 15q. We have performed a genomewide linkage screen on a large family with ADPHSP, in which linkage to all four previously known loci was excluded. Analysis of markers on chromosome 12q gave a peak pairwise LOD score of 3.61 at D12S1691, allowing us to assign a new locus for ADPHSP (a locus that we have designated "SPG10") to this region. Haplotype construction and analysis of recombination events narrowed the SPG10 locus to a 9.2-cM region between markers D12S368 and D12S83. In addition, our data strongly suggest that there are at least six ADPHSP loci, since we describe a further family in which linkage to all five known ADPHSP loci has been excluded.
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