Thomas Deufel

TL;DR: The clinical analysis of the 238 mutation carriers revealed a high proportion of both asymptomatic carriers and patients unaware of symptoms, and permitted the redefinition of this frequent form of AD-HSP.

TL;DR: REEP1 is established as a relatively frequent autosomal dominant HSP gene for which genetic testing is warranted and haploinsufficiency as the main molecular genetic mechanism in SPG31, which should initiate and guide functional studies on REEP1 with a focus on loss-of-function mechanisms.

TL;DR: The cloning and partial DNA sequence analysis of the gene encoding the alpha 2/delta-subunits, CACNL2A, and its localization on the proximal long arm of chromosome 7q suggest that mutations in or near CAC NL2A may be involved in some forms of this heterogeneous disorder.

TL;DR: The recent technological advances and applications that fulfil the criteria for clinical proteomics are discussed, with the focus on fluid proteomics, relating to preanalytical factors, analytical standardization and quality-control measures required for effective implementation into routine laboratory testing in order to generate clinically useful information.

TL;DR: Partial SPAST deletions, but not SPAST amplifications and SPG3A copy number aberrations, represent an underestimated cause of autosomal dominant hereditary spastic paraplegia.