Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …

Pain and nociception are different phenomena. Nociception is the result of complex activity
in sensory pathways. On the other hand, pain is the effect of interactions between …

In the field of hereditary spastic paraplegia (HSP), progress in molecular diagnostics needs
to be translated into robust phenotyping studies to understand genetic and phenotypic …

In the field of rare diseases, progress in molecular diagnostics led to the recognition that
variants linked to autosomal-dominant neurodegenerative diseases of later onset can, in the …

Hereditary sensory and autonomic neuropathy 9 (HSAN9) is a rare fatal neurological
disease caused by mis-and nonsense mutations in the gene encoding for Tectonin β …

Background and Objectives AP-4-associated hereditary spastic paraplegia (AP-4-HSP:
SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary …

Early-onset forms of hereditary spastic paraplegia and inborn errors of metabolism that
present with spastic diplegia are among the most common “mimics” of cerebral palsy. Early …

Grip strength is an important biomarker reflecting muscle strength, and depression is a
psychiatric disorder all over the world. Several studies found a significant inverse …

Hereditary spastic paraplegias are a diverse group of degenerative disorders that are
clinically categorized as isolated; with involvement of lower limb spasticity, or symptomatic …

Mutations in the TECPR2 gene are the cause of an ultra-rare neurological disorder
characterized by intellectual disability, impaired speech, motor delay, and hypotonia …