Seipin/BSCL2 mutation screening in sporadic adult-onset upper motor neuron syndromes

J Neurol. 2009 May;256(5):824-6. doi: 10.1007/s00415-009-5009-6. Epub 2009 Mar 1.

Authors

Frans Brugman, Hans Scheffer, H Jurgen Schelhaas, Willy M Nillesen, John H J Wokke, Bart P C van de Warrenburg, Leonard H van den Berg

PMID: 19252810
DOI: 10.1007/s00415-009-5009-6

No abstract available

Publication types

Letter

MeSH terms

Adolescent
Adult
Age of Onset
Aged
DNA Mutational Analysis
Disease Progression
Female
GTP-Binding Protein gamma Subunits / genetics*
Gene Frequency / genetics
Genetic Markers / genetics
Genetic Predisposition to Disease / genetics*
Genetic Testing
Genotype
Humans
Male
Middle Aged
Motor Neuron Disease / diagnosis
Motor Neuron Disease / genetics*
Motor Neuron Disease / physiopathology
Mutation / genetics*
Polymorphism, Genetic / genetics
Spastic Paraplegia, Hereditary / diagnosis
Spastic Paraplegia, Hereditary / genetics*
Spastic Paraplegia, Hereditary / physiopathology
Young Adult

Substances

BSCL2 protein, human
GTP-Binding Protein gamma Subunits
Genetic Markers