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Spastic paraplegia 7
- ... the disorder. Hereditary spastic paraplegia, paraplegin type Spastic paraplegia 7 Genetic Testing Registry: Hereditary spastic paraplegia Genetic Testing ...
- ... the brain.CYP7B1 gene mutations that cause spastic paraplegia type 5A reduce or eliminate the activity of oxysterol 7-alpha-hydroxylase. In the brain, a decrease in ...
- ... basis of microtubule severing by the hereditary spastic paraplegia protein spastin. Nature. 2008 Jan 17;451(7176):363-7. doi: 10.1038/nature06482. Citation on PubMed or ...
- ... j.pharmthera.2005.06.001. Epub 2005 Jul 7. Citation on PubMed
- ... M. Brazilian family with pure autosomal dominant spastic paraplegia maps to 8q: analysis of muscle beta 1 syntrophin. Am J Med Genet. 2000 May 15;92(2):122-7. doi: 10.1002/(sici)1096-8628(20000515)92: ...
- ... Organization for Rare Disorders (NORD) ClinicalTrials.gov ... of central brain abnormality and motor neuron disease? J Neurol. 1999 Jul;246(7):556-61. doi: 10.1007/s004150050403. Citation on ...
- ... Pisano T, Pruna D, Cianchetti C. Progressive spastic paraplegia as a feature of ... Am J Med Genet A. 2015 Jul;167(7):1474-82. doi: 10.1002/ajmg.a.37036. ...
- Spastic paraplegia type 49 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders ... the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: ...
- ... a frequent cause of complicated autosomal-recessive spastic paraplegia, including ... J Neurol. 2014 Feb;261(2):435-7. doi: 10.1007/s00415-013-7216-4. Epub ...
- ... the aqueduct of Sylvius (HSAS), MASA syndrome, spastic paraplegia type 1, and X-linked complicated corpus callosum ... may have mild enlargement of the ventricles.Spastic paraplegia type 1 is characterized by progressive muscle stiffness ( ...