Deletions Causing Spinal Muscular Atrophy Do Not Predispose to Amyotrophic Lateral Sclerosis

Abstract

The SMN and NAIP gene mutations are specific for spinal muscular atrophy and do not predispose individuals to ALS.

Levels of Arsenic, Cadmium, Lead, Manganese and Zinc in Biological Samples of Paralysed Steel Mill Workers with Related to Controls

“…Further neurological deterioration, resulting from lesion extension after the initial injury, can occur naturally in about 5% of cases, and complications associated with the systemic effects of SCI can lead to respiratory compromise [1]. Several studies have described the importance of abnormal protein-metal interactions and oxidative stress in neurodegenerative diseases [1,2]. Parboosingh et al [2] investigated that zinc (Zn) stabilises the association of myelin brain protein with brain myelin membranes, facilitates T-cell proliferation and chemotaxis and influences T-cell responses to certain interleukins.…”

“…Several studies have described the importance of abnormal protein-metal interactions and oxidative stress in neurodegenerative diseases [1,2]. Parboosingh et al [2] investigated that zinc (Zn) stabilises the association of myelin brain protein with brain myelin membranes, facilitates T-cell proliferation and chemotaxis and influences T-cell responses to certain interleukins.…”

Abnormal SMN1 gene copy number is a susceptibility factor for amyotrophic lateral sclerosis

“…7 To date, homozygous deletions of SMN1 or SMN2 genes have not been associated with ALS. 8,9 Nevertheless, to our knowledge, no previous studies have evaluated the role of SMN gene copy numbers. We tested this hypothesis in sporadic ALS patients and controls.…”

Genetics of Amyotrophic Lateral Sclerosis

“…SMN2 deletions were associated with shorter survival in this study. However, a study by the same group using more ALS and control samples and several other studies did not find a higher frequency of SMN2 deletions in ALS patients versus controls (Corcia et al, 2006;Gamez et al, 2002;Moulard et al, 1998;Parboosingh et al, 1999;Veldink et al, 2005).…”

“…The impaired assembly of the spliceosome could lead to neuronal degeneration. Thus far, five different studies have failed to detect homozygous SMN1 deletions in ALS patients (Gamez et al, 2002;Jackson et al, 1996;Moulard et al, 1998;Orrell et al, 1997;Parboosingh et al, 1999). However, an increased frequency of abnormal copy number (one or three copies) of SMN1 was found in ALS patients compared to controls (Corcia et al, 2002).…”