Aims The hereditary spastic paraplegias (HSPs) are a heterogeneous group of inherited
neurodegenerative disorders. Although, several genotype–phenotype studies have carried …

Hereditary spastic paraparesis is a group of inherited neurological diseases characterized
by underlying wide genetic heterogeneity. It should be suspected if there is a positive …

Movement Disorders in Childhood, Second Edition, provides the most up-to-date information
on the diseases and disorders that affect motor control, an important area of specialization …

Various groups of neurological disorders, including movement disorders and neuromuscular
diseases, are clinically and genetically heterogeneous. Diagnostic panel-based exome …

BACKGROUND AND PURPOSE: The “ears of the lynx” MR imaging sign has been
described in case reports of hereditary spastic paraplegia with a thin corpus callosum …

Background Underlying medical causes of obesity (endocrine disorders, genetic obesity
disorders, cerebral or medication-induced obesities) are thought to be rare. Even in …

Hereditary spastic paraplegia (HSP) is a heterogeneous group of rare motor neuron
disorders characterized by progressive weakness and spasticity of the lower limbs. HSP …

Neurofilaments are intermediate filaments present in neurons. These provide structural
support and maintain the size and shape of the neurons. Dysregulation, mutation, and …

SPG11 mutations are the major cause of autosomal recessive Hereditary Spastic
Paraplegia. The disease has a wide phenotypic variability indicating many regions of the …

Hereditary spastic paraplegias (HSP) are the second most common type of motor neuron
disease recognized worldwide. We investigated a total of 25 consanguineous families from …