High throughput genotyping: microarray-based resequencing for autosomal-dominant hereditary spastic paraplegia
N Schlipf, R Schüle, C Dufke, M Bonin, M Auer-Grumbach, G Stevanin, A Brice, C Beetz, J Kassubek, S Klebe, S Klimpe, T Klopstock, S Otto, S Poths, A Seibel, H Stolze, P Bauer, L Schöls · Aktuelle Neurologie · 2009 · Heft 10
Bibliografische Angaben
Zusammenfassung
Background: The hereditary spastic paraplegias (HSPs) are a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by progressive spasticity of the lower limbs. Forty-two different loci have been mapped so far, and 17 responsible genes have been identified. Autosomal-dominant (AD-HSP), autosomal-recessive (AR-HSP), and X-linked (XL-HSP) modes of inheritance have been described. Clinically, pure forms are limited to affection of the pyramidal tracts whereas complicated forms present additional neurological signs. For correct diagnosis moleculargenetic testing is essential becau…
