A phenotypic-genetic study of a group of Polish patients with spinal and bulbar muscular atrophy.

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.

Does apoptosis occur in amyotrophic lateral sclerosis? TUNEL experience from human amyotrophic lateral sclerosis (ALS) tissues.

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.

[Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis patients with dysphagia. A preliminary report].

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.