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Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case

Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case
Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case
Although defects in the gene encoding the enzyme cytosolic copperlzinc superoxide dismutase (SODI) have been reported in 20% of familial amyotrophic lateral sclerosis (ALS) patients, the etiology of the remaining familial cases and the more common sporadic form of the disease remains unknown. Recently, deletions of the neuronal apoptosis inhibitory protein gene NAZP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood7-onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system. We have therefore investigated the possibility of alterations in SMN and NAIP in 154 patients with ALS (135 sporadic cases, 17 familial cases). None of these patients revealed mutations in SMN by single-strand conformation polymorphism analysis. A single patient revealed a partial deletion of NAIP, with a homozygous absence of NAIP exon 5. While it is possible that this individual is one of the rare carriers of SMA who show NAIP deletions, a further explanation is that the NAIP deletion is in some way contributing to the ALS phenotype in this individual.
0364-5134
796-800
Jackson, Mandy
d545b76e-503f-49d2-b016-5df96fda3721
Morrison, Karen E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Al-Chalabi, Ammar
db16bbda-7684-49b4-9b2d-9799c7dba33c
Baldier, Martijn
e0f5cf42-dd39-4738-95e4-593b37fd619f
Leigh, Peter N.
b5c89ee3-eb5f-44e5-884d-d5e8d9f6d267
Jackson, Mandy
d545b76e-503f-49d2-b016-5df96fda3721
Morrison, Karen E.
f00890f0-2fde-4dbd-a73b-7422e1b0ede8
Al-Chalabi, Ammar
db16bbda-7684-49b4-9b2d-9799c7dba33c
Baldier, Martijn
e0f5cf42-dd39-4738-95e4-593b37fd619f
Leigh, Peter N.
b5c89ee3-eb5f-44e5-884d-d5e8d9f6d267

Jackson, Mandy, Morrison, Karen E., Al-Chalabi, Ammar, Baldier, Martijn and Leigh, Peter N. (1996) Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case. Annals of Neurology, 39 (6), 796-800. (doi:10.1002/ana.410390616).

Record type: Article

Abstract

Although defects in the gene encoding the enzyme cytosolic copperlzinc superoxide dismutase (SODI) have been reported in 20% of familial amyotrophic lateral sclerosis (ALS) patients, the etiology of the remaining familial cases and the more common sporadic form of the disease remains unknown. Recently, deletions of the neuronal apoptosis inhibitory protein gene NAZP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood7-onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system. We have therefore investigated the possibility of alterations in SMN and NAIP in 154 patients with ALS (135 sporadic cases, 17 familial cases). None of these patients revealed mutations in SMN by single-strand conformation polymorphism analysis. A single patient revealed a partial deletion of NAIP, with a homozygous absence of NAIP exon 5. While it is possible that this individual is one of the rare carriers of SMA who show NAIP deletions, a further explanation is that the NAIP deletion is in some way contributing to the ALS phenotype in this individual.

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Published date: June 1996
Organisations: Medical Education

Identifiers

Local EPrints ID: 399550
URI: https://eprints.soton.ac.uk/id/eprint/399550
ISSN: 0364-5134
PURE UUID: 7169684f-0a1b-451d-b06f-bc97a154775d
ORCID for Karen E. Morrison: ORCID iD orcid.org/0000-0003-0216-5717

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Date deposited: 18 Aug 2016 12:52
Last modified: 12 Nov 2019 01:33

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Contributors

Author: Mandy Jackson
Author: Ammar Al-Chalabi
Author: Martijn Baldier
Author: Peter N. Leigh

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