Hereditary Spastic Paraplegias: Latest Advances and Prospects

Dear Colleagues,

Hereditary spastic paraplegias (HSP) are a heterogeneous group of hereditary neurodegenerative disorders, with progressive gait disturbance due to spasticity as a core symptom, in complicated forms of HSP combined with various additional neurological symptoms. Recently, important advances have been made concerning the molecular pathophysiology and natural history of these disorders. Next-generation sequencing (NGS) technologies have considerably enlarged the number of genes (currently >60) causing monogenetic HSP.

The purpose of this Special Issue is to further broaden our knowledge by highlighting recent advances on the molecular pathogenesis of this diverse group of motor neuron disorders, to improve possibilities of genetic counselling for patients and relatives, and to contribute to ultimately paving the way toward urgently needed causative therapies for at least some forms of these frequently severely incapacitating diseases.    

The identification of new genes causing HSP, especially with the aid of NGS technologies, and the discovery that a growing number of subtypes of HSP may be inherited either as an autosomal dominant or autosomal recessive trait, have both improved our understanding of the considerable genetic heterogeneity of HSP and simultaneously raised new questions about the underlying intracellular processes. For many subtypes of HSP, mitochondrial function, intracellular transport, the shaping of the endoplasmic reticulum (ER), lipid metabolism, autophagy, neuronal development, and myelination have been either confirmed or newly described as important cellular functions whose impairment may cause various forms of either “pure” or “complicated” HSP.

Dr. Christoph Kamm
Guest Editor

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• Hereditary spastic paraplegia
• Intracellular trafficking
• Neurodegeneration
• Next-generation sequencing