Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

Marco Luigetti; Davide Quaranta; Amelia Conte; Chiara Piccininni; Serena Lattante; Angela Romano; Gabriella Silvestri; Marcella Zollino; Mario Sabatelli

doi:10.3109/17482968.2012.692383

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

Marco Luigetti, Davide Quaranta, Amelia Conte, Chiara Piccininni, Serena Lattante, Angela Romano, Gabriella Silvestri, Marcella Zollino, Mario Sabatelli

Risultato della ricerca: Contributo in rivista › Articolo

12 Citazioni (Scopus)

Abstract

It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected

Lingua originale	Inglese
pagine (da-a)	66-69
Numero di pagine	4
Rivista	Amyotrophic Lateral Sclerosis
Volume	14
DOI	https://doi.org/10.3109/17482968.2012.692383
Stato di pubblicazione	Pubblicato - 2012

Keywords

C9ORF72

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10.3109/17482968.2012.692383

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title = "Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion",

abstract = "It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected",

keywords = "C9ORF72, C9ORF72",

author = "Marco Luigetti and Davide Quaranta and Amelia Conte and Chiara Piccininni and Serena Lattante and Angela Romano and Gabriella Silvestri and Marcella Zollino and Mario Sabatelli",

year = "2012",

doi = "10.3109/17482968.2012.692383",

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journal = "Amyotrophic Lateral Sclerosis",

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T1 - Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

AU - Luigetti, Marco

AU - Quaranta, Davide

AU - Conte, Amelia

AU - Piccininni, Chiara

AU - Lattante, Serena

AU - Romano, Angela

AU - Silvestri, Gabriella

AU - Zollino, Marcella

AU - Sabatelli, Mario

PY - 2012

Y1 - 2012

N2 - It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected

AB - It has been recently reported that a large proportion of patients with familial and sporadic amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) carries the hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72. We describe a patient with a complex phenotype characterized by behavioural variant of FTD, Parkinsonism and ALS with predominant lower motor neuron involvement in which the C9ORF72 expansion was detected

KW - C9ORF72

UR - http://hdl.handle.net/10807/18139

U2 - 10.3109/17482968.2012.692383

DO - 10.3109/17482968.2012.692383

M3 - Article

SN - 1748-2968

VL - 14

SP - 66

EP - 69

JO - Amyotrophic Lateral Sclerosis

JF - Amyotrophic Lateral Sclerosis

ER -

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

Abstract

Keywords

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