ABSTRACT
We studied phenotype-genotype correlation in a group of Polish males with spinal and bulbar muscular atrophy (SBMA) and in female carriers. Eleven males with suspected SBMA phenotype and three suspected female carriers were examined. Male patients presented with the predominant signs of progressive, symmetrical distal limb weakness with amyotrophy, facial muscular weakness with orofacial fasciculations, nasal voice and slight dysphagia, gynaecomastia, decreased potency, as well as hand tremor and distal peripheral sensory disturbances in a few cases. One of the carriers presented with a 30-year history of fasciculations and minimal distal weakness and cramps in the legs, while the other two were asymptomatic. DNA analysis revealed expanded size of CAG repeats in Xq11-12 in the AR gene in 10 out of 11 men (range 45-52 CAG repeats) and in the women (range 46-48 CAG repeats). There was no correlation between CAG repeat size and the age of disease onset and duration of the disease. A rare, predominantly distal distribution of weakness and amyotrophy was found in our group of the SBMA patients (8 out of 11 cases) from three unrelated kindreds and also in the remaining two sporadic cases. The extended CAG repeats within families were stable.
Subject(s)
Muscular Disorders, Atrophic/genetics , Muscular Disorders, Atrophic/physiopathology , Adult , Aged , DNA/genetics , Electromyography , Electrophysiology , Female , Gene Frequency , Heterozygote , Humans , Male , Middle Aged , Motor Neurons/physiology , Pedigree , Phenotype , Poland/epidemiology , Repetitive Sequences, Nucleic Acid , Reverse Transcriptase Polymerase Chain ReactionABSTRACT
The role that apoptosis plays in the pathogenesis of amyotrophic lateral sclerosis (ALS) is still unclear. From our autopsy samples, we have undertaken an effort to verify if apoptosis in ALS really occurs or if can at least be detected. The study was performed using TUNEL method for screening the apoptotic changes in the autopsy samples from 8 ALS cases compared with 16 control cases. No features of apoptosis (DNA cleavages) were noted in any of the investigated regions of the central nervous system in ALS cases as well as in controls. These preliminary results seem to support the reports, which deny the role of apoptosis in human ALS. The following investigations using additional methods will be performed for detection the apoptotic signals in ALS.
Subject(s)
Amyotrophic Lateral Sclerosis/pathology , Apoptosis/physiology , Brain/pathology , Aged , Female , Humans , In Situ Nick-End Labeling , Male , Middle Aged , Motor Neurons/pathologyABSTRACT
Percutaneous endoscopic gastrostomy (PEG) has been proposed as symptomatic treatment of dysphagia in amyotrophic lateral sclerosis (ALS) patients. The aim of our study was to assess the safety and complications and survival after PEG implantations in 13 ALS patients. We discuss the factors related to survival in two groups: dead (6 out of 13 patients) and alive (7 out of 13) after PEG implantations. We demonstrate that the PEG procedure is quite safe and forced vital capacity (FVC) is a major factor related to survival after PEG implantation in studied patients.
