Development of a therapy guideline for HSP
HSP specialists and patient representatives from all over Europe work together on a therapy guideline for HSP.
New Webinar Series for Rare Neurological Diseases
The European Reference Networks for Rare Neurological Diseases (ERN-RND) and Neuromuscular Diseases (EURO-NMD) together with the European Academy of…
Discovery of a new autosomal recessive HSP gene: SPTAN1
Autosomal recessive mutations in the SPTAN1 gene cause a new form of HSP.
Researchers at Boston Children's Hospital have generated human stem cells from a family with HSP type 47 (AP4B1).
Publication: Human stem cells for the rare HSP form SPG47
De novo and dominant mutations in the kinesin gene KIF1A are a common cause of HSP.
Researchers at Radboud University in Nijmegen, Holland, identify heterozygous KIF1A variants in 6-7% of cases with HSP. Thus, KIF1A mutations are a…
Severe childhood-onset form of SPG4
A particular variant in the SPAST gene, responsible for the most common form of HSP (SPG4), leads to a severe, early-onset form of HSP.
Project start of the BMBF-funded TreatHSP network on 01.05.2019
The BMBF-funded treatHSP network will start officially on 01.05.2019.
Publication: Botulinum toxin injections and stretching exercises lead to functional improvement
Publication: Combined botulinum toxin injections into hip adductors and daily stretching exercises lead to functional improvement of gait parameters…