Mutations in the ALS2 gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraple...

A cross-correlation technique of analysis was used to measure the transmission characteristics of tonic stretch reflex (TSR) pathways in spastic-athetoid subjects sustaining a voluntary contraction in the biceps brachii muscle. A comparison was made with the transmission characteristics of normal subjects measured by the same technique. It was found that gain and phase characteristics of spasti...

Hereditary spastic paraplegias are inherited neurological disorders characterized by progressive lower-limb spasticity and weakness. Although more than 50 genetic loci are known [spastic gait (SPG)1 to -57], over half of hereditary spastic paraplegia cases are caused by pathogenic mutations in four genes encoding proteins that function in tubular endoplasmic reticulum (ER) network formation: at...

BACKGROUND Analysis of aberrant hypermethylation in stool DNA might provide a novel strategy for noninvasive detection of colorectal cancer. AIMS To explore the feasibility of detecting hypermethylation in Spastic paraplegia-20 promoter as a stool-based DNA marker for detection of colorectal cancer. METHODS We collected 96 tissue and stool samples from patients with colorectal cancer and 30...

As a form of treatment in cerebral palsy, bracing has yet to meet universal acceptance. 2 , 5 , 6 Besides published opinions slighting the value of braces, in practice one frequently encounters a prejudice against prescribing them in "spastic" disease. This attitude, it must be granted, is not groundless. Phelps, 4 a proponent of braces, refers to the danger of aggravating spasticity with brace...

The aim of the present study was to conduct a familial investigation and provide a genetic diagnosis to a family presenting with spastic paraplegia and clinically diagnosed with hereditary spastic paraplegia (HSP). Blood samples were obtained from the family, and mutations in the gene causing spinocerebellar ataxia type 3 (SCA3)/Machado-Joseph disease (MJD), known as MJD1, were analyzed using t...

This investigation quantified maximum active resultant joint torques in children with spastic diplegia cerebral palsy and nondisabled children. An isokinetic dynamometer rotated the limb (10°/s) while the resultant knee joint torques (both assistive and resistive) during knee extension and flexion in 6 nondisabled children and 26 children with cerebral palsy were recorded. Torque–angle data wer...

Silver syndrome (Silver spastic paraplegia syndrome) is a rare disorder of the peripheral nervous system that combines features of spastic paraparesis and peripheral neuropathy. The underlying genetic defects are two mutations in the BSCL2 gene which have been described in several families. Silver syndrome--related to the N88S mutation in the BSCL2 gene--is characterized by a spectrum of clinic...

OBJECTIVE To demonstrate that a nutritional support intervention, via naso-enteral tube-feeding or gastrostomy, has a significant impact on the nutritional status and body composition in severely malnourished children with cerebral palsy spastic quadriplegia. METHODS Thirteen patients with moderate/severe malnutrition and cerebral palsy spastic quadriplegia who were fed via naso-enteral tube-...