Online citations, reference lists, and bibliographies.
← Back to Search

Genetics Of ALS In Italian Families

C. Gellera
Published 2001 · Biology, Medicine

Save to my Library
Download PDF
Analyze on Scholarcy Visualize in Litmaps
Share
Reduce the time it takes to create your bibliography by a factor of 10 by using the world’s favourite reference manager
Time to take this seriously.
Get Citationsy
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder affecting motor neurons. The majority of the patients are sporadic cases (SALS), while 10A15% of patients has a family history of ALS (familial ALS or FALS). Mutations in the gene coding for cytoplasmic Cu/Zn superoxide dismutase (SOD1) have been identified in 20% of FALS. We found SOD1-gene mutations in 7 of 36 unrelated FALS and in 3 of 48 SALS patients. Four FALS patients carried previously described mutations, the A4V (2 cases), the L84F mutations (1 case), and the G93D (1 case), while three FALS patients carried new missense mutations: the G12R mutation, the F45C mutation and the V47F mutation, respectively. Two SALS patients carried previously reported mutations: the homozygous D90A and the heterozygous I113T mutation, respectively. In addition, in one SALS patient we identified an apparently non-pathogenic SOD1 variant: the A95T mutation. Our study contributes to expand the number of ALS-associated SOD1 gene mutations. (ALS 2001; 2 (suppl 1): S43AS46)
This paper references
10.1212/WNL.36.4.511
Familial adult motor neuron disease: amyotrophic lateral sclerosis
D. Mulder (1986)
10.1038/362059a0
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
D. Rosen (1993)
10.1016/S0140-6736(94)92913-0
"Sporadic" motoneuron disease due to familial SOD1 mutation with low penetrance
G. Suthers (1994)
10.1038/NG0794-425
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33–q35
A. Hentati (1994)
10.1212/WNL.44.2.347
SOD1 missense mutation in an Italian family with ALS
I. Rainero (1994)
10.1038/NG0595-61
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase
P. Andersen (1995)
10.1212/WNL.47.5.1336
D90A heterozygosity in the SOD1 gene is associated with familial and apparently sporadic amyotrophic lateral sclerosis
W. Robberecht (1996)
10.1136/jnnp.61.6.565
Cu/Zn superoxide dismutase gene mutations in amyotrophic lateral sclerosis: correlation between genotype and clinical features.
A. Radunović (1996)
10.1002/ANA.410410212
Epidemiology of mutations in superoxide dismutase in amyotrophic lateal sclerosis
M. Cudkowicz (1997)
10.1002/ANA.410430319
Mutations in all five exons of SOD‐1 may cause ALS
C. Shaw (1998)
10.1017/S0317167100034004
Identification of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis.
Y. Boukaftane (1998)
10.1093/HMG/7.13.2045
Recessive amyotrophic lateral sclerosis families with the D90A SOD1 mutation share a common founder: evidence for a linked protective factor.
A. Al-Chalabi (1998)
10.1086/301769
Linkage of the gene for an autosomal dominant form of juvenile amyotrophic lateral sclerosis to chromosome 9q34.
P. Chance (1998)
IdentiŽcation of six novel SOD1 gene mutations in familial amyotrophic lateral sclerosis
Y Boukaftane (1998)
10.1016/S0022-510X(99)00216-6
Clinical characteristics of SOD1 gene mutations in UK families with ALS
R. Orrell (1999)
10.1212/WNL.53.2.404
A SOD1 gene mutation in a patient with slowly progressing familial ALS
S. Penco (1999)
10.1016/S0022-510X(98)00237-8
Heterogeneous distribution of amyotrophic lateral sclerosis patients with SOD-1 gene mutations: preliminary data on an Italian survey
A. Malaspina (1999)
10.1038/sj.ejhg.5200337
Mutational analysis of the Cu/Zn superoxide dismutase gene in 23 familial and 69 sporadic cases of amyotrophic lateral sclerosis in Belgium
T. Aguirre (1999)
10.1016/S0022-510X(99)00022-2
Genetics of familial ALS and consequences for diagnosis 1
W. Camu (1999)



This paper is referenced by
10.1002/acn3.51112
11C‐PK11195 PET–based molecular study of microglia activation in SOD1 amyotrophic lateral sclerosis
G. Tondo (2020)
10.1080/14737159.2020.1779060
Common mutations of interest in the diagnosis of amyotrophic lateral sclerosis: how common are common mutations in ALS genes?
Benedetta Perrone (2020)
10.1007/s00415-018-8778-y
Riluzole and other prognostic factors in ALS: a population-based registry study in Italy
J. Mandrioli (2018)
10.12968/BJNN.2017.13.2.63
Clinical utility of riluzole in patients with motor neurone disease (amytrophic lateral sclerosis)
S. Thomason (2017)
10.22038/IJBMS.2014.3443
An Iranian familial amyotrophic lateral sclerosis pedigree with p.Val48Phe causing mutation in SOD1: a genetic and clinical report
Afagh Alavi (2014)
10.2217/NMT.13.7
Multidisciplinary clinics: optimizing treatment for patients with amyotrophic lateral sclerosis
Karina A Riemenschneider (2013)
10.5772/56547
Genetics of ALS and Correlations Between Genotype and Phenotype in ALS — A Focus on Italian Population
L. Diamanti (2013)
10.1016/j.neurobiolaging.2012.06.008
C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect
A. Ratti (2012)
10.1136/jnnp.2011.242313
Novel optineurin mutations in patients with familial and sporadic amyotrophic lateral sclerosis
R. del Bo (2011)
10.18725/OPARU-2132
SOD1-Mutationen bei der familiären ALS in Deutschland. Häufigkeit und Relevanz von SOD1-Mutationen und anderen pathogenetisch relevanten Genveränderungen
Malessa Rabe (2010)
10.1080/17482960701788198
The rare G93D mutation causes a slowly progressing lower motor neuron disease
G. Restagno (2008)
10.1212/01.wnl.0000299187.90432.3f
Prevalence of SOD1 mutations in the Italian ALS population
A. Chiò (2008)
10.1371/journal.pbio.0060170
Protein Aggregation and Protein Instability Govern Familial Amyotrophic Lateral Sclerosis Patient Survival
Q. Wang (2008)
10.1080/17482960801900073
SOD1 gene mutations in ALS patients from British Columbia, Canada: Clinical features, neurophysiology and ethical issues in management
A. Eisen (2008)
10.1080/17482960701262376
Good practice in the management of amyotrophic lateral sclerosis: Clinical guidelines. An evidence‐based review with good practice points. EALSC Working Group
P. Andersen (2007)
10.1007/S11910-996-0008-9
Amyotrophic lateral sclerosis associated with mutations in the CuZn superoxide dismutase gene
P. Andersen (2006)
10.1001/ARCHNEUR.63.2.262
The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis.
L. Régal (2006)
Superoxide dismutase 1 and amyotrophic lateral sclerosis
P. A. Jonsson (2005)
10.1111/j.1468-1331.2005.01351.x
EFNS task force on management of amyotrophic lateral sclerosis: guidelines for diagnosing and clinical care of patients and relatives
P. Andersen (2005)
10.1007/s00415-005-0742-y
SOD1 mutations in amyotrophic lateral sclerosis
S. Battistini (2005)
Semantic Scholar Logo Some data provided by SemanticScholar