Balance improvements in healthy subjects are independent to postural strategies involved in the training.

Background: Adequate postural strategies have a pivotal role in ensuring balance during the performance of daily or sport activities. These strategies are responsible for the management of center of mass kinematics and depend on the magnitude of perturbations and posture assumed by a subject.

Research Question: Are there differences in postural performance after a standardized balance training performed in sitting versus standing posture in healthy subjects? Does a standardized unilateral balance training with the dominant or non-dominant limb improve balance on trained and untrained limbs in healthy subjects?

Methods: Seventy-five healthy subjects reporting a right-leg dominance were randomized into a Sitting, Standing, Dominant, Non-dominant or Control groups.

Creatine transporter defect diagnosed by proton NMR spectroscopy in males with intellectual disability.

Creatine deficiency syndrome due to mutations in X-linked SLC6A8 gene results in nonspecific intellectual disability (ID). Diagnosis cannot be established on clinical grounds and is often based on the assessment of brain creatine levels by magnetic resonance spectroscopy (MRS). Considering high costs of MRS and necessity of sedation, this technique cannot be used as a first level-screening test.

A missense mutation in the coiled-coil domain of the KIF5A gene and late-onset hereditary spastic paraplegia.

Background: To our knowledge, up to now, only 2 mutations in the KIF5A gene, a member of the kinesin superfamily, have been identified as the molecular cause of early-onset autosomal dominant hereditary spastic paraparesis (ADHSP).

Objective: To assess the genetic defect in a family with late-onset ADHSP.

Patients And Methods: Only the proband agreed to undergo complete neurological testing and mutational analysis.

Two novel mutations in the spastin gene (SPG4) found by DHPLC mutation analysis.

The most common form of autosomal dominant hereditary spastic paraplegia is caused by mutations in the gene encoding spastin (SPG4), a member of the AAA family of ATPases. In the current study, we designed a denaturing high-performance liquid chromatography based protocol for the analysis of the SPG4 gene. Using this method, we detected two novel missense mutations, 1375A > G (R459G) and 1378C > T (R460C), one previously described five bases deletion (1215_1219del) and three polymorphic changes.