D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

Giuseppe Marangi; Marcella Zollino; Mario Sabatelli; Alessandra Del Grande; Amelia Conte; Serena Lattante; Marco Luigetti; Francesca Madia; Giulia Bisogni

doi:10.1016/j.jns.2011.07.041

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

Giuseppe Marangi, Marcella Zollino, Mario Sabatelli, Alessandra Del Grande, Amelia Conte, Serena Lattante, Marco Luigetti, Francesca Madia, Giulia Bisogni

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Abstract

We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.

Original language	English
Pages (from-to)	31-33
Number of pages	3
Journal	Journal of the Neurological Sciences
Volume	309
DOIs	https://doi.org/10.1016/j.jns.2011.07.041
Publication status	Published - 2011

Keywords

ALS

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10.1016/j.jns.2011.07.041

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title = "D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation",

abstract = "We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.",

keywords = "ALS, ALS",

author = "Giuseppe Marangi and Marcella Zollino and Mario Sabatelli and {Del Grande}, Alessandra and Amelia Conte and Serena Lattante and Marco Luigetti and Francesca Madia and Giulia Bisogni",

year = "2011",

doi = "10.1016/j.jns.2011.07.041",

language = "English",

volume = "309",

pages = "31--33",

journal = "Journal of the Neurological Sciences",

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publisher = "Elsevier BV:PO Box 211, 1000 AE Amsterdam Netherlands:011 31 20 4853757, 011 31 20 4853642, 011 31 20 4853641, EMAIL: nlinfo-f@elsevier.nl, INTERNET: http://www.elsevier.nl, Fax: 011 31 20 4853598",

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TY - JOUR

T1 - D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

AU - Marangi, Giuseppe

AU - Zollino, Marcella

AU - Sabatelli, Mario

AU - Del Grande, Alessandra

AU - Conte, Amelia

AU - Lattante, Serena

AU - Luigetti, Marco

AU - Madia, Francesca

AU - Bisogni, Giulia

PY - 2011

Y1 - 2011

N2 - We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.

AB - We describe three sporadic ALS patients in which a D11Y SOD1 mutation was detected. All three patients disclosed a prolonged survival and a stereotypical distal limbs involvement in the initial stages of the disease. By this report we demonstrate that D11Y SOD1 mutation is associated with a peculiar phenotype and we confirm its probable pathogenetic role.

KW - ALS

UR - http://hdl.handle.net/10807/3659

U2 - 10.1016/j.jns.2011.07.041

DO - 10.1016/j.jns.2011.07.041

M3 - Article

VL - 309

SP - 31

EP - 33

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation

Abstract

Keywords

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