SPG10 in German families with hereditary spastic paraplegia
R. Schüle, M. Auer-Grumbach, J. Kassubek, S. Klimpe, T. Klopstock, S. Otto, B. van de Warrenburg, A. Seibel, L. Schöls · Aktuelle Neurologie · 2006 · Heft 09
Bibliografische Angaben
Zusammenfassung
Hereditary spastic paraplegia (HSP) comprises a clinically and genetically heterogeneous group of neurodegenerative disorders of the spinal cord. At present 31 SPG loci and 11 genes have been characterized including 12 loci and 6 genes for autosomal dominant HSP, 14 loci and 3 genes for autosomal recessive disease and 4 loci and 2 genes for X-linked forms. HSP presents clinically as “pure“ spastic paraplegia with signs and symptoms restricted to pyramidal tracts or as “complicated“ form in which spasticity is accompanied by additional signs like mental retardation, dysarthria, ataxia or distal amyotrophy. Mutati…
