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Neurological Sciences

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01-04-2020 | Amyotrophic Lateral Sclerosis | Letter to the Editor

Dropped head syndrome in a patient with FTD-ALS caused by abnormal expansion of C9orf72 gene

Authors: Andrea Quattrone, Maurizio Morelli, Rita Nisticò, Ida Manna, Aldo Quattrone

Published in: Neurological Sciences | Issue 4/2020

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Dear Editor, …

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Gijselinck I, Van Langenhove T, van der Zee J et al (2012) A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol. 11:54–65. https://doi.org/10.1016/S1474-4422(11)70261-7 CrossRefPubMed

Cooper-Knock J, Shaw PJ, Kirby J (2014) The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype. Acta Neuropathol. 127:333–345. https://doi.org/10.1007/s00401-014-1251-9 CrossRefPubMedPubMedCentral

Uemura M, Kosaka T, Shimohata T et al (2013) Dropped head syndrome in amyotrophic lateral sclerosis. Amyotroph Lateral Scler Frontotemporal Degener. 14:232–233. https://doi.org/10.3109/17482968.2012.727424 CrossRefPubMed

Blair IP, Williams KL, Warraich ST et al (2010) FUS mutations in amyotrophic lateral sclerosis: clinical, pathological, neurophysiological and genetic analysis. J Neurol Neurosurg Psychiatry. 81:639–645. https://doi.org/10.1136/jnnp.2009.194399 CrossRefPubMed

Title: Dropped head syndrome in a patient with FTD-ALS caused by abnormal expansion of C9orf72 gene
Authors: Andrea Quattrone
Maurizio Morelli
Rita Nisticò
Ida Manna
Aldo Quattrone
Publication date: 01-04-2020
Publisher: Springer International Publishing
Keywords: Amyotrophic Lateral Sclerosis
Frontotemporal Dementia
Frontotemporal Dementia
Published in: Neurological Sciences / Issue 4/2020
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-019-04079-9

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Dropped head syndrome in a patient with FTD-ALS caused by abnormal expansion of C9orf72 gene

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