An Update on the Interventions for Hereditary Spastic Paraplegia
Jennifer Arnold1, Mahmoud Elkhooly2, Ahmad El Kouzi1
1Southern Illinois University School of Medicine, 2Department of Neurology, Southern Illinois University, Springfield, IL, USA; Department of Neurology and Psychiatry , Minia University, Minia, Egypt
Objective:

The aim of this article is to provide an update on the current interventions for Hereditary Spastic Paraplegia (HSP) including the oral/intrathecal medications, physical therapies and surgical interventions.

Background:

Hereditary spastic paraplegias (HSPs) are a diverse group of monogenic neurological disorders that contribute to corticospinal and dorsal spinal cord axonal atrophy. It has a prevalence of 0.1–9.6 cases per 100,000 people worldwide. The diagnosis and classification based on the inheritance pattern and the clinical phenotypes. Different pathophysiological mechanisms are involved that’s why the treatment is still challenging.

Design/Methods:

A thorough search of the Cochrane Library, PubMed, and Scopus databases was done to find research papers or clinical trials that discussed interventions being used to treat HSP.

Results:

More than 20 studies investigating the current and updated interventions for HSP. Several medications have been investigated for HSP treatment as Gabapentin, Progabide, Dalfampridine, Botulinum toxins, L dopa, Betaine and folic acid. Only Gabapentin and progabide showed moderate efficacy.  Other drugs such as Rapamycin (RM), N-Acetyl Cysteine (NAC), Guanabenz (GA), and Methylene blue (MB), have been studies in animal models with good response. From a physiotherapies perspective, many interventions have been tried as electrical stimulation, robotic gait training, and hydrotherapy. All of them are effective but need more trials to confirm that. Surgical intervention as intrathecal delivery of baclofen (ITB) and Selective Dorsal Rhizotomy (SDR) have been effective. Recent clinical trials including PCSK9 Inhibitor as evolocumab, Shock wave therapy and Spinal cord stimulation are still being investigated.

Conclusions:

HSP treatment is still challenging. More research should be directed to the genetics and the probable biomarkers to aid in the establishment of more effective treatment.

10.1212/WNL.0000000000206527