P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis

Amelia Conte; Serena Lattante; Marcella Zollino; Giuseppe Marangi; Marco Luigetti; Alessandra Del Grande; Serenella Servidei; Federica Trombetta; Mario Sabatelli

doi:10.1016/j.nmd.2011.08.003

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis

Amelia Conte, Serena Lattante, Marcella Zollino, Giuseppe Marangi, Marco Luigetti, Alessandra Del Grande, Serenella Servidei, Federica Trombetta, Mario Sabatelli

Risultato della ricerca: Contributo in rivista › Articolo in rivista › peer review

73 Citazioni (Scopus)

Abstract

Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with literature data, indicate that this mutation is consistently associated with a specific phenotype characterized by juvenile onset, severe course and high proportion of de novo mutations in sporadic cases.

Lingua originale	English
pagine (da-a)	73-75
Numero di pagine	3
Rivista	Neuromuscular Disorders
Volume	22
DOI	https://doi.org/10.1016/j.nmd.2011.08.003
Stato di pubblicazione	Pubblicato - 2012

Keywords

Amyotrophic Lateral Sclerosis
Child
DNA Mutational Analysis
Female
Humans
Mutation
Phenotype
RNA-Binding Protein FUS

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10.1016/j.nmd.2011.08.003

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title = "P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis",

abstract = "Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with literature data, indicate that this mutation is consistently associated with a specific phenotype characterized by juvenile onset, severe course and high proportion of de novo mutations in sporadic cases.",

keywords = "Amyotrophic Lateral Sclerosis, Child, DNA Mutational Analysis, Female, Humans, Mutation, Phenotype, RNA-Binding Protein FUS, Amyotrophic Lateral Sclerosis, Child, DNA Mutational Analysis, Female, Humans, Mutation, Phenotype, RNA-Binding Protein FUS",

author = "Amelia Conte and Serena Lattante and Marcella Zollino and Giuseppe Marangi and Marco Luigetti and {Del Grande}, Alessandra and Serenella Servidei and Federica Trombetta and Mario Sabatelli",

year = "2012",

doi = "10.1016/j.nmd.2011.08.003",

language = "English",

volume = "22",

pages = "73--75",

journal = "Neuromuscular Disorders",

issn = "0960-8966",

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TY - JOUR

T1 - P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis

AU - Conte, Amelia

AU - Lattante, Serena

AU - Zollino, Marcella

AU - Marangi, Giuseppe

AU - Luigetti, Marco

AU - Del Grande, Alessandra

AU - Servidei, Serenella

AU - Trombetta, Federica

AU - Sabatelli, Mario

PY - 2012

Y1 - 2012

N2 - Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with literature data, indicate that this mutation is consistently associated with a specific phenotype characterized by juvenile onset, severe course and high proportion of de novo mutations in sporadic cases.

AB - Some FUS mutations have been observed in patients with the juvenile form of Amyotrophic Lateral Sclerosis starting before 25 years. We report an 11-year-old girl affected by sporadic juvenile ALS with a rapid course resulting in tracheostomy after 14 months from the onset. Sequencing FUS gene revealed a de novo P525L mutation. Our findings, together with literature data, indicate that this mutation is consistently associated with a specific phenotype characterized by juvenile onset, severe course and high proportion of de novo mutations in sporadic cases.

KW - Amyotrophic Lateral Sclerosis

KW - Child

KW - DNA Mutational Analysis

KW - Female

KW - Humans

KW - Mutation

KW - Phenotype

KW - RNA-Binding Protein FUS

KW - Amyotrophic Lateral Sclerosis

KW - Child

KW - DNA Mutational Analysis

KW - Female

KW - Humans

KW - Mutation

KW - Phenotype

KW - RNA-Binding Protein FUS

UR - http://hdl.handle.net/10807/3657

U2 - 10.1016/j.nmd.2011.08.003

DO - 10.1016/j.nmd.2011.08.003

M3 - Article

SN - 0960-8966

VL - 22

SP - 73

EP - 75

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

ER -

P525L FUS mutation is consistently associated with a severe form of juvenile amyotrophic lateral sclerosis

Abstract

Keywords

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