BACKGROUND Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC) is a complicated form of hereditary spastic paraplegia, characterized by progressive spastic paraplegia, weakness of the lower extremities and is usually accompanied by mental retardation. Mutations in the Spastic Paraplegia gene 11 (SPG11) account for a large proportion of ARHSP-TCC cases world...

OBJECTIVE To quantify dynamic spasticity, i.e. the coupling between muscle-tendon stretch velocity and muscle activity during gait, of the gastrocnemius and soleus muscles in children with spastic cerebral palsy. DESIGN Prospective, cross-sectional study. SUBJECTS Seventeen ambulatory children with cerebral palsy with spastic calf muscles, and 11 matched typically developing children. MET...

INTRODUCTION Balance impairments are common in patients with hereditary spastic paraplegia and are among the most debilitating symptoms, as they frequently result in falls and fall-related injuries. Several features of hereditary spastic paraplegia contribute to balance impairments and multiple treatment options exist. However, an overview of these underlying mechanisms and their treatment is c...

PURPOSE Spastic diplegia is the most common form of cerebral palsy. It presents with symmetric involvement of the lower limbs and upper limbs. Children with spastic diplegia frequently experience problems with motor control, spasticity, and balance which lead to gait abnormalities. The aim of this study is twofold. Firstly, to determine the differences in spatial-temporal gait parameters and ma...

The hereditary spastic paraplegias (HSP) are a large group of inherited neurologic disorders that share the primary symptom difficulty in walking due to weakness and spasticity lower limbs. Spastic paraplegia-48 (SPG48) is an autosomal recessive disorder characterized by limbs resulting gait difficulties. Biallelic mutations AP5Z1 known cause this complex form paraplegia referred as SPG48 (MIM#...

© 2010 The Authors. doi: 10.2340/16501977-0579 Journal Compilation © 2010 Foundation of Rehabilitation Information. ISSN 1650-1977 Objective: To quantify dynamic spasticity, i.e. the coupling between muscle-tendon stretch velocity and muscle activity during gait, of the gastrocnemius and soleus muscles in children with spastic cerebral palsy. Design: Prospective, cross-sectional study. Subjects...

Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. To date, 72 spastic gait disease-loci and 55 spast...

Botulinum toxin injections may significantly improve lower limb kinematics in gait of children with spastic forms of cerebral palsy. Here we aimed to analyze the effect of lower limb botulinum toxin injections on trunk postural control and lower limb intralimb (intersegmental) coordination in children with spastic diplegia or spastic hemiplegia (GMFCS I or II). We recorded tridimensional trunk ...

A sibship is reported in which two males have spastic paraparesis and Kallmann's syndrome (hypogonadotrophic hypogonadism and anosmia). One of the brothers also is color blind. The association of familial spastic paraplegia and Kallmann's syndrome has not been described previously.

White matter lesions are often seen in children with spastic cerebral palsy (CP). Evidence points to specific impairment of attentional, visuospatial, and executive functions; although both attention and executive functions are relatively unexplored in spastic CP. The few recent studies on language functions in mild or moderate CP point to well-functioning language. The presence of specific cog...