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.

SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis

“…To our knowledge, this is the first study examining CNVs of genes in 5q13.2 duplication other than SMN as risk factors for SALS susceptibility and survival. Former studies took the NAIP gene into consideration; nonetheless, due to methodological limitations, they could only detect its homozygous deletion [23]. Despite the absence of association in our study, a recent study by Kano et al [24] reported that the NAIP protein level in ALS patients was lower by nearly half compared to healthy controls.…”

SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis

“…To our knowledge, this is the first study examining CNVs of genes in 5q13.2 duplication other than SMN as risk factors for SALS susceptibility and survival. Former studies took the NAIP gene into consideration; nonetheless, due to methodological limitations, they could only detect its homozygous deletion [23]. Despite the absence of association in our study, a recent study by Kano et al [24] reported that the NAIP protein level in ALS patients was lower by nearly half compared to healthy 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).…”

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients

“…[6][7][8] In a recent series including only sporadic patients, the prevalence was 16%. Analysis of the homozygous deletion of the SMN2 gene in all ALS patients from our series showed a prevalence of 8.87% (9% considering only sporadic cases), similar to the control group (10%).…”

“…Sterno (diethylene glycol; DEG) and antifreeze (ethylene glycol) ingestion may present with confusion and ataxia followed by acute renal failure and often rapid demise. [3][4][5][6][7][8] These incidents mainly affected children because of the We know of no English-language reports of severe, delayed cranial and peripheral neuropathy following DEG ingestion.…”

SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis

“…To our knowledge, this is the first study examining CNVs of genes in 5q13.2 duplication other than SMN as risk factors for SALS susceptibility and survival. Former studies took the NAIP gene into consideration; nonetheless, due to methodological limitations, they could only detect its homozygous deletion [23]. Despite the absence of association in our study, a recent study by Kano et al [24] reported that the NAIP protein level in ALS patients was lower by nearly half compared to healthy 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).…”

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients

“…[6][7][8] In a recent series including only sporadic patients, the prevalence was 16%. Analysis of the homozygous deletion of the SMN2 gene in all ALS patients from our series showed a prevalence of 8.87% (9% considering only sporadic cases), similar to the control group (10%).…”

“…Sterno (diethylene glycol; DEG) and antifreeze (ethylene glycol) ingestion may present with confusion and ataxia followed by acute renal failure and often rapid demise. [3][4][5][6][7][8] These incidents mainly affected children because of the We know of no English-language reports of severe, delayed cranial and peripheral neuropathy following DEG ingestion.…”

SMN1 copy number as a modifying factor of survival in Serbian patients with sporadic amyotrophic lateral sclerosis

“…To our knowledge, this is the first study examining CNVs of genes in 5q13.2 duplication other than SMN as risk factors for SALS susceptibility and survival. Former studies took the NAIP gene into consideration; nonetheless, due to methodological limitations, they could only detect its homozygous deletion [23]. Despite the absence of association in our study, a recent study by Kano et al [24] reported that the NAIP protein level in ALS patients was lower by nearly half compared to healthy 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).…”

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients

“…[6][7][8] In a recent series including only sporadic patients, the prevalence was 16%. Analysis of the homozygous deletion of the SMN2 gene in all ALS patients from our series showed a prevalence of 8.87% (9% considering only sporadic cases), similar to the control group (10%).…”

“…Sterno (diethylene glycol; DEG) and antifreeze (ethylene glycol) ingestion may present with confusion and ataxia followed by acute renal failure and often rapid demise. [3][4][5][6][7][8] These incidents mainly affected children because of the We know of no English-language reports of severe, delayed cranial and peripheral neuropathy following DEG ingestion.…”