ArticleAmerican journal of human genetics2001
The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype.
Article in American journal of human genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 87 citations in OpenAlex.
- A De NovoJournal of pediatric genetics · 2021Article
- Importance of lipids for upper motor neuron health and disease.Seminars in cell & developmental biology · 2021Review
- 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
- Promethin Is a Conserved Seipin Partner Protein.Cells · 2019Article
- Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.Journal of molecular medicine (Berlin, Germany) · 2018Article
- Towards a mechanistic understanding of lipodystrophy and seipin functions.Bioscience reports · 2014Review
- Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms.Acta neuropathologica · 2013Review
- Re-analysis of an original CMTX3 family using exome sequencing identifies a known BSCL2 mutation.Muscle & nerve · 2013Article
- Motor neuron degeneration in a mouse model of seipinopathy.Cell death & disease · 2013Article
- The first Italian family with evidence of pyramidal impairment as phenotypic manifestation of Silver syndrome BSCL2 gene mutation.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2008Article
- Further evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndrome.Journal of the neurological sciences · 2007Article
- Silver syndrome.BMJ (Clinical research ed.) · 2007Article
- Unraveling the genetics of distal hereditary motor neuronopathies.Neuromolecular medicine · 2006Review
- Hereditary spastic paraplegia.Current neurology and neuroscience reports · 2006Review
- A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.Journal of neurology · 2004Article
- Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.Journal of neurology · 2004Article
- Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.Neurogenetics · 2004Article
- Refinement of the Silver syndrome locus on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.Human genetics · 2003Article
- Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.Journal of medical genetics · 2003Review
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
The hereditary spastic paraplegias (HSPs) are a complex group of neurodegenerative disorders characterized by lower-limb spasticity and weakness. Silver syndrome (SS) is a particularly disabling dominantly inherited form of HSP, complicated by amyotrophy of the hand muscles. Having excluded the multiple known HSP loci, we undertook a genomewide screen for linkage of SS in one large multigenerational family, which revealed evidence for linkage of the SS locus, which we have designated "SPG17," to chromosome 11q12-q14. Haplotype construction and analysis of recombination events permitted the minimal interval defining SPG17 to be refined to approximately 13 cM, flanked by markers D11S1765 and D11S4136. SS in a second family was not linked to SPG17, demonstrating further genetic heterogeneity in HSP, even within this clinically distinct subtype.
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