Hereditary spastic paraplegia (HSP) is a diverse group of Mendelian genetic disorders
affecting the upper motor neurons, specifically degeneration of their distal axons in the …

Amyotrophic lateral sclerosis is a relentlessly progressive multi-system condition. The
clinical picture is dominated by upper and lower motor neuron degeneration, but extra-motor …

Background The cerebellar ataxia, neuropathy, and vestibular areflexia syndrome was
initially described in the early 1990s as a late‐onset slowly progressive condition. Its …

Molecular pathways that intrinsically regulate neuronal maintenance are poorly understood,
but rare pathogenic mutations that underlie neurodegenerative disease can offer important …

Background and Objectives Hereditary spastic paraplegias (HSPs) are a group of inherited
rare neurologic disorders characterized by length-dependent degeneration of the …

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 …

This cohort study aimed to characterize the prodromal phase of hereditary spastic
paraplegia type 4 (SPG4) using biomarkers and clinical signs and symptoms that develop …

Introduction Hereditary spastic paraplegias (HSP) include a clinically and genetically
heterogeneous group of conditions. Novel imaging modalities have been increasingly …

Background SPG11-linked hereditary spastic paraplegia is characterized by multisystem
neurodegeneration leading to a complex clinical and yet incurable phenotype of progressive …

Background and Purpose A variety of hereditary diseases overlap with neurological
phenotypes or even share genes with hereditary spastic paraplegia (HSP). The aim of this …