Hereditary Spastic Paraplegias (HSP) are a group of rare hereditary movement disorders, defined by progressive axonopathy of the corticospinal tract motoneurons. Clinically, HSPs are characterized by lower limb spasticity and weakness, variably accompanied by impairment of vibration sense and neurogenic bladder impairment. In so-called complicated forms of the disease, neurodegeneration is more widespread leading to additional signs and symptoms including cognitive impairment, seizures, optic atrophy, cerebellar ataxia, peripheral nerve involvement and many more. The age of onset in HSPs is highly variable even within families and ranges from infancy to late adulthood.
HSPs can be transmitted in autosomal dominant, autosomal recessive, X-linked and even mitochondrial fashion. More than 100 genes are known to cause HSP or HSP-related phenotypes; still, about 40% of cases currently remain without a genetic diagnosis.
Treatment for HSP is currently symptomatic and involves physical therapy, antispastic drugs, pain management as well as management of other associated symptoms (Rebecca Schüle, 2019).