An Italian dominant FALS Leu144Phe SOD1 mutation: genotype‐phenotype correlation

Ferrera, Loretta; Caponnetto, Claudia; Marini, Valéria; Rizzi, D; Bordo, Domenico; Penco, Silvana; Amoroso, Antonio; Origone, Paola; Garrè, Cecilia

doi:10.1080/aml.4.3.167.170

Cited by 17 publications

(10 citation statements)

References 14 publications

(20 reference statements)

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“…We found SOD1 gene exonic mutations in 7 out of 39 previously unreported FALS Italian patients (17.9 %). Up to now 8 mutations in the SOD1 gene have been previously described in FALS Italian patients [7,12,14,15,29,30].All mutations have been identified in single families with the exception of the A4V and L84F recognized in two and four pedigrees respectively [7,14,15]. The G12R mutation has been first identified in a FALS Italian patient [5,29], successively included in another published series [15].…”

Section: Discussionmentioning

confidence: 93%

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SOD1 mutations in amyotrophic lateral sclerosis

et al. 2005

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Amyotrophic Lateral Sclerosis (ALS), the most common form among motoneuron diseases, is characterized by a progressive neurodegenerative process involving motor neurons in the motor cortex, brain stem and spinal cord. Sporadic (SALS) accounts for the majority of patients but in about 10% of ALS cases the disease is inherited (FALS), usually as an autosomal dominant trait. In the present study we show the results of a referred based multicenter study on the distribution of SOD1 gene mutations in the largest cohort of Italian ALS patients described so far. Two hundred and sixty-four patients (39 FALS and 225 SALS) of Italian origin were studied. In 7 out of 39 FALS patients we found the following SOD1 gene mutations: i) a new G12R missense mutation in exon 1, found in a patient with a slowly progressive disease course; ii) the G41S mutation, in four unrelated patients with rapidly progressive course complicated with cognitive decline in two of them; iii) the L114F mutation, in a patient with a slowly progressive phenotype; iv) the D90A mutation, in a heterozygous patient with atypical phenotype. In addition, in one SALS patient a previously reported synonymous variant S59S was identified. In 17 (3 FALS and 14 SALS) out of 264 patients (6.4 %) the polymorphism A-->C at position 34 of intron 3 (IVS3: + 34 A-->C) was found, and in one FALS patient a novel variant IVS3 + 62 T-->C was identified. The frequency of SOD1 gene mutations (17.9 %) in FALS cases was comparable with that found in other surveys with a similar sample size of ALS cases. No SOD1 gene mutations have been identified in SALS cases. Within FALS cases, The most frequent mutation was the G41S identified in four FALS.

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Section: Discussionmentioning

confidence: 93%

“…Six affected relatives in three generations were identified on anamnestic data and medical records. A great variability of age at onset and disease duration was observed, while clinical presentation was quite uniform prominently affecting the lower limbs [12].…”

Section: ■ Molecular Analysis and Clinical Features Of Sod1 Mutated Pmentioning

confidence: 99%

SOD1 mutations in amyotrophic lateral sclerosis

et al. 2005

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“…Other mutations in patients with more than 10 year's survival were Gly37Arg in exon 1 [9], Gly41Asp in exon 1 [9], Asp90Ala in exon 4 [17], Gly93Cys in exon 4 [9], Gly93Asp in exon 4 [5], Ile104Phe in exon 4 [18], Leu144Ser in exon 5 [19], and Leu144Phe in exon5 [20]. There is no comprehensive effort to correlate the genotype of FALS patients having a SOD1 mutation and their phenotype characteristics.…”

Section: Discussionmentioning

confidence: 94%

Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions

Nabeshima

Kato

et al. 2004

Journal of the Neurological Sciences

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“…SOD1 mutations are usually observed in amyotrophic lateral sclerosis families that exhibit autosomal dominant inheritance. 28 However, a few mutations in this gene have been reported to be causative only in the homozygous state. 29,30 In any case, as association between C20orf54 and BBVLS has only recently been identified and the mode of inheritance of the disorder has not always been clear-cut, further screening of C20orf54 in BVVLS patients is warranted.…”

Section: Four Novel Mutations In the Known Bvvls-causing Gene C20orf54mentioning

confidence: 99%

Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients

et al. 2012

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An Italian dominant FALS Leu144Phe SOD1 mutation: genotype‐phenotype correlation

Abstract: There is evidence of a correlation between this mutation and a slowly progressive phenotype of ALS. Moreover this rare mutation might derive from a common ancestor.

Cited by 17 publications

References 14 publications

SOD1 mutations in amyotrophic lateral sclerosis

SOD1 mutations in amyotrophic lateral sclerosis

Familial amyotrophic lateral sclerosis with His46Arg mutation in Cu/Zn superoxide dismutase presenting characteristic clinical features and Lewy body-like hyaline inclusions

Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients

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