Homozygous deletion of the survival motor neuron 2 gene is a prognostic factor in sporadic ALS

Neurology

Volumn 56, Issue 6, 2001, Pages 749-753

  Veldink, J H ^a   Van Den Berg, L H ^a   Cobben, J M ^b   Stulp, R P ^c   De Jong, J M B V ^d   Vogels, O J ^e   Baas, F ^d   Wokke, J H J ^a   Scheffer, H ^c  

^a UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^b VU UNIVERSITY AMSTERDAM   (Netherlands)

^c UNIVERSITY OF GRONINGEN   (Netherlands)

^d ACADEMIC MEDICAL CENTER   (Netherlands)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; CONTROLLED STUDY; EXON; FEMALE; GENE; GENE DELETION; HUMAN; MAJOR CLINICAL STUDY; MALE; MOTONEURON; NERVE CELL NECROSIS; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; REGRESSION ANALYSIS; SPINAL MUSCULAR ATROPHY; SURVIVAL MOTOR NEURON GENE 1; SURVIVAL MOTOR NEURON GENE 2; SURVIVAL TIME;

EID: 0035957312     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.56.6.749     Document Type: Article

References (27)

1. Motor neuron disease. The clinical syndrome
2. Identification and characterization of a spinal muscular atrophy-determining gene
3. When is a deletion not a deletion? When it is converted
4. Deletions of the survival motor neuron gene in unaffected siblings of patients with spinal muscular atrophy
5. Differential SMN2 expression associated with SMA severity
6. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
7. What's in a name? Amyotrophic lateral sclerosis, motor neuron disease, and allelic heterogeneity
8. Immunolocalization of NAIP in the human brain and spinal cord
9. El Escorial World Federation of Neurology criteria for the diagnosis of amyotrophic lateral sclerosis
10. PCR-based DNA test to confirm clinical diagnosis of autosomal recessive spinal muscular atrophy
11. SMA carrier testing - Validation of hemizygous SMN exon 7 deletion test for the identification of proximal spinal muscular atrophy carriers and patients with a single allele deletion
12. Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNt and SMNc gene copy number
13. Natural history of amyotrophic lateral sclerosis in a database population. Validation of a scoring system and a model for survival prediction
14. Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous NAIP deletion in a sporadic case
15. Deletions causing spinal muscular atrophy do not predispose to amyotrophic lateral sclerosis
16. Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
17. A survival analysis of 155 cases of progressive muscular atrophy
18. The central nervous system in motor neuron disease
19. Genomic variation and gene conversion in spinal muscular atrophy: Implications for disease process and clinical phenotype
20. Cloning, characterization, and copy number of the murine survival motor neuron gene: Homolog of the spinal muscular atrophy-determining gene
21. Hybrid survival motor neuron genes in patients with autosomal recessive spinal muscular atrophy: New insights into molecular mechanisms responsible for the disease
22. Correlation of SMNt and SMNc gene copy number with age of onset and survival in spinal muscular atrophy
23. Apparent gene conversions involving the SMN gene in the region of the spinal muscular atrophy locus on chromosome 5
24. The role of the SMN gene in proximal spinal muscular atrophy
25. Duplications and de novo deletions of the SMNt gene demonstrated by fluorescence-based carrier testing for spinal muscular atrophy
26. The relationship of spinal muscular atrophy to motor neuron disease: Investigation of SMN and NAIP gene deletions in sporadic and familial ALS
27. The role of SMN in spinal muscular atrophy