Novel mutation in VCP gene causes atypical amyotrophic lateral sclerosis.

Objective: To identify the genetic variant that causes autosomal dominantly inherited motor neuron disease in a 4-generation Israeli-Arab family using genetic linkage and whole exome sequencing.

Methods: Genetic linkage analysis was performed in this family using Illumina single nucleotide polymorphism chips. Whole exome sequencing was then undertaken on DNA samples from 2 affected family members using an Illumina 2000 HiSeq platform in pursuit of potentially pathogenic genetic variants that comigrate with the disease in this pedigree.

A rare recessive distal hereditary motor neuropathy with HSJ1 chaperone mutation.

Objective: Distal hereditary motor neuropathies (dHMN) form a clinically and genetically heterogeneous group of disorders, characterized by muscle weakness and atrophy predominating at the distal part of the limbs, due to the progressive degeneration of motor neurons in the spinal cord. We report here a novel rare variant of dHMN with autosomal recessive inheritance in a large Jewish family originating from Morocco. The disease is characterized by a predominance of paralysis at the lower limbs and an early adulthood onset.

Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation.

We studied two sisters with rapidly progressing ALS starting at the ages of 46 and 48 years and leading to death after 14 months. Both fulfilled the El Escorial criteria for definite ALS and had marked upper motor neuron (UMN) predominance. Brain MRI, on fluid attenuation recovery (FLAIR) mode, showed outstanding hyperintensities of the precentral gyrus, centrum semiovale, corona radiata and along the corticospinal pathways in the brainstem.

Long-lasting cognitive, physiological and hematological effects in rehabilitated, early dietary iron-deficiency adult rats, and improvement by treatment with a mixture of essential fatty acids.

Despite some successful interventions and the large research efforts on this topic, iron deficiency and anemia remain the most common nutritional disorders in the world today. Recently, several researchers indicated that early, induced, iron deficiency produced a long-lasting effect even if the hemoglobin and iron levels returned to normal values. Recent human studies showed that 10-12-year-old children, who were iron deficient at age 1 year, showed lower IQ scores.

Pretreatment with a mixture of essential fatty acids protects rats from anxiogenic effects of REM deprivation.

Rapid eye movements (REM) deprivation induces complex deteriorating effects, which include brain morphological changes such as reduced neurogenesis processes, brain neurochemical and hormonal modifications, and cognitive decline. One of the major effects of REM deprivation is an increased anxiety level. The aim of this study was to examine the effects ofpretreatment with a specific mixture of essential fatty acids on the increased level of anxiety on the behavioral level (elevated plus maze), on the hormonal level (corticosterone level) and on the physiological level (thermoregulation).

Inspiratory muscle training and the perception of dyspnea in Parkinson's disease.

Background: Pulmonary and respiratory muscle function impairment are common in patients with Parkinson's disease (PD). Inspiratory muscle training may improve strength, dyspnea and functional capacity in healthy subjects and in those with chronic obstructive pulmonary disease. This study investigated the effect of specific inspiratory muscle training (SIMT) on pulmonary functions, inspiratory muscle performance, dyspnea and quality of life, in patients with PD.

A locus for complicated hereditary spastic paraplegia maps to chromosome 1q24-q32.

We updated the clinical features of a consanguineous Arab Israeli family, in which four of seven children were affected by spastic paraplegia complicated by skin pigmentary abnormalities. A genomewide linkage screen performed for the family identified a new locus (SPG23) for this form of hereditary spastic paraplegia, in an approximately 25cM region of chromosome 1q24-q32, with a peak logarithm of odds score of 3.05.

The role of polyunsaturated fatty acids in restoring the aging neuronal membrane.

In addition to a gradual loss of neurons in various brain regions, major biochemical changes in the brain affect the neuronal membrane that is the "site of action" for many essential functions including long-term potentiation (LTP), learning and memory, sleep, pain threshold, and thermoregulation. Normal physiological functioning includes the transmission of axonal information, regulation of membrane-bound enzymes, control of ionic channels and various receptors. All are highly dependent on membrane fluidity, where rigidity is increased during aging.

Respiratory muscle performance and the Perception of dyspnea in Parkinson's disease.

Background: Pulmonary and respiratory muscle function impairment are common in patients with Parkinson's disease (PD). However, dyspnea is not a frequent complaint among these patients, although it is well documented that the intensity of dyspnea is related to the activity and the strength of the respiratory muscles.

Patients And Methods: We studied pulmonary function, respiratory muscle strength and endurance and the perception of dyspnea (POD) in 20 patients with PD (stage II and III Hoehn and Yahr scale) before and after their first daily L-dopa dose.