Respiratory onset in an ALS family with L144F SOD1 mutation

Corcia, Philippe; Petiot, P.; Stević, Zorica; Vourc’h, Patrick; Morales, Raúl Juntas; Gordon, Paul H.; Pageot, Nicolas; Andres, Christian R.; Camu, William

doi:10.1136/jnnp.2009.197558

Cited by 6 publications

(3 citation statements)

References 15 publications

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“…A similar pattern of variable gene distribution has been found among ALS patients with mutations in causative genes for familial ALS: the D90A SOD1 mutation predominates in northern Sweden and Finland, and the L144F in eastern Mediterranean countries (Italy and Istro-Rumania). 18,19 SOD1 gene mutations are rare in The Netherlands and Denmark. 20,21 Mutations in the Angiogenin gene are rare in Sweden, England and Germany, but relatively common in Scotland and Ireland.…”

Section: Discussionmentioning

confidence: 99%

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

et al. 2012

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Abnormal survival motor neuron 1 (SMN1)-copy number has been associated with an increased risk of amyotrophic lateral sclerosis (ALS) in French and Dutch population studies. The aim of this study was to determine whether SMN gene copy number increases the risk of ALS or modulates its phenotype in a cohort of Swedish sporadic ALS (SALS) patients. In all, 502 Swedes with SALS and 502 Swedish controls matched for gender and age were enrolled. SMN1 and SMN2 gene copy numbers were studied by a semiquantitative PCR method. A genotype-phenotype comparison was performed in order to determine whether SMN genes modulate the phenotype of ALS. The results were also compared with our previously reported French cohort of ALS patients. There was no difference between Swedish patients and controls in the frequency of SMN1 and SMN2 copy numbers. The frequency of SMN1 gene copies differed significantly between the French and Swedish ALS populations. The duration of the disease was significantly longer in the Swedish cohort with homozygous deletions of SMN2 when compared with the French cohort. Abnormal SMN1 gene copy number cannot be considered as a universal genetic susceptibility factor for SALS and this result underlines the importance of reproducing association gene studies in groups from different origins. We also suggest that SMN2 gene copy number might have different effects on ALS progression in disparate human populations.

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Section: Discussionmentioning

confidence: 99%

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

et al. 2012

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“…To note, the patient with a positive family history developed ALS symptoms at a relatively early age, whereas onset for the other patient was late. Although a significant number of patients with this mutation have lower limb onset (Corcia et al, 2011), both of our patients developed upper and lower motor neuron signs. The rare p.Val14Met mutation was detected in an apparently sporadic case in a female patient with upper and lower motor neuron signs.…”

Section: Discussionmentioning

confidence: 60%

Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis

Tripolszki

Csányi

Nagy

et al. 2017

Neurobiology of Aging

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Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the death of motor neurons. To date, more than 20 genes have been implicated in ALS, and of these, the 2 most frequently mutated are the superoxide dismutase 1 (SOD1) gene and the chromosome 9 open reading frame 72 (C9ORF72) gene. In this study, we aimed to investigate the contribution of these 2 Mendelian genes to the development of the disease in Hungarian ALS patients (n = 66). Direct sequencing of the SOD1 gene revealed a novel (p.Lys91ArgfsTer8) and 3 recurrent heterozygous mutations (p.Val14Met, p.Asp90Ala, and p.Leu144Phe) in 5 patients. The novel p.Lys91ArgfsTer8 mutation led to a frameshift causing the addition of 8 new amino acids, including a premature stop codon at position 99. The GGGGCC hexanucleotide repeat expansion of the C9ORF72 gene was present in 1 ALS patient. This study represents the first genetic analysis of 2 major ALS causative genes in a cohort of Hungarian ALS patients and contributes to the further understanding of the genetic and phenotypic diversity of ALS.

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“…So the possibility that the patient suffered from SOD1 mutation-ALS could be excluded. Certainly, ALS cases linked to SOD1 mutations may sometimes present with unusual clinical features such as pure lower motor neuron involvement or sensory signs [13]. If there are other symptoms one needs to think about a number of syndromes, such as mitochondrial encephalomyopathy, multiple sclerosis, acute demyelinating encephalopathy, etc.…”

Section: Discussionmentioning

confidence: 99%

Ultra-Structural Observation of the Focal Brain in a Patient with Motor Neuron Disease

Wang¹,

Luo²,

Wu³

et al. 2018

Neuropsychiatry

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Objectives:To observe the ultra-structural changes of the brain tissue in a patient with motor neuron disease. Methods:A stereotactic brain biopsy of the local lesions was performed based on the abnormal signals on magnetic resonance images, and the brain tissues were underwent light and electronic microscopic examination.Results: Extensive extra-cellular edema and neuron necrosis were found in the internal capsule and thalamus. Metachromatic substances were found in the cyto-plasma and were characterized by electronic dense granules, arranged in flat plate layers or in flat lines. Disorganized and degenerating mitochondria were observed in astrocytes and neurons.Conclusions: Ultra-structural observation of the brain tissues might be helpful in understanding the central neuropathological changes in a patient with MND. Characteristic metachromatic substances might be found in the cyto-plasma. Neurons in the brain of a patient with MND might undergo a process of degeneration.

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Respiratory onset in an ALS family with L144F SOD1 mutation

Cited by 6 publications

References 15 publications

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

Genetic analysis of the SOD1 and C9ORF72 genes in Hungarian patients with amyotrophic lateral sclerosis

Ultra-Structural Observation of the Focal Brain in a Patient with Motor Neuron Disease

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