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Sep 21, 2010 · Clinical characteristics. Spastic paraplegia 3A (SPG3A; also known as ATL1 -HSP) is characterized by progressive bilateral and mostly symmetric spasticity and weakness of the legs. Compared to other forms of autosomal dominant hereditary spastic paraplegia (HSP), in which diminished vibration sense (caused by degeneration of the ...
- Peter Hedera
- 2020/06/18
- 2014
Oct 8, 2019 · SPG3 (SPG3A; OMIM 182600) form of HSP is caused by pathogenic variants in the ATL1 gene (protein: Atlastin). Alastin is a protein implicated in vesicle trafficking and neurite outgrowth.
- V. A. Kadnikova, G. E. Rudenskaya, A. A. Stepanova, I. G. Sermyagina, O. P. Ryzhkova
- 2019
Principal, Architect at Bergmann Associates. spg3 | 160 followers on LinkedIn. spg3 is more then an architectural firm. We bring thirty years of carefully built relationships to each of our ...
Aug 8, 2022 · The genetic loci are designated as SPG (for SPastic parapleGia) and are numbered sequentially as SPG1, SPG2, SPG3, and so on . The numbering of the SPGs is based upon the order of locus discovery and not on the mechanism of genetic transmission.
Early Reports of Autosomal Dominant Spastic Paraplegia. In the Amish of Lancaster County, Pa., a kindred with spastic paraplegia in 3 generations was observed ( McKusick, 1965 ). In this closed community the origin of the de novo mutation could be identified with considerable certainty.
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Jan 29, 2014 · Motor neuron disease. Hereditary spastic paraplegias (HSPs) comprise a heterogeneous group of disorders characterized by progressive spasticity and weakness of the lower limbs. Autosomal dominant...
