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Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation

We observed a Polish family with familial amyotrophic lateral sclerosis with heterozygous L144S SOD1 mutation, which manifested clinically as flail leg syndrome. Flail leg syndrome is a rare phenotype of amyotrophic lateral sclerosis, with slow progression, long survival, and predominance of lower m...

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Autores principales: Zapalska, Ewa, Wrzesień, Dominika, Stępień, Adam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073428/
https://www.ncbi.nlm.nih.gov/pubmed/37034065
http://dx.doi.org/10.3389/fneur.2023.1138668
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author Zapalska, Ewa
Wrzesień, Dominika
Stępień, Adam
author_facet Zapalska, Ewa
Wrzesień, Dominika
Stępień, Adam
author_sort Zapalska, Ewa
collection PubMed
description We observed a Polish family with familial amyotrophic lateral sclerosis with heterozygous L144S SOD1 mutation, which manifested clinically as flail leg syndrome. Flail leg syndrome is a rare phenotype of amyotrophic lateral sclerosis, with slow progression, long survival, and predominance of lower motor neuron signs at onset, as a triad of distal paresis, muscle atrophy, and hyporeflexia/areflexia, confined to the lower limbs for an extended period of time. Although familial amyotrophic lateral sclerosis is usually associated with a worse prognosis than the sporadic form of the disease, the clinical course of the disease in patients with L144S SOD1 mutation is benign, with slow progression and long survival. This unique case report provides an in-depth clinical analysis of all of the symptomatic members of a family, who were diagnosed with amyotrophic lateral sclerosis in our clinic, including three siblings (two brothers and a deceased sister) with flail leg syndrome and their fraternal aunt, who has been previously misdiagnosed with cervical myelopathy and is living with symptoms of the disease for 15 years. Sanger sequencing of the SOD1 gene was performed in all of the living patients, revealing an L144S (c.434T>C, p.Leu145Ser) heterozygous mutation. The aim of this case report is to increase the physician's awareness of the atypical phenotypes of amyotrophic lateral sclerosis and hopefully, to encourage further research on the factors responsible for delayed disease progression in patients with L144S SOD1 mutation.
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spelling pubmed-100734282023-04-06 Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation Zapalska, Ewa Wrzesień, Dominika Stępień, Adam Front Neurol Neurology We observed a Polish family with familial amyotrophic lateral sclerosis with heterozygous L144S SOD1 mutation, which manifested clinically as flail leg syndrome. Flail leg syndrome is a rare phenotype of amyotrophic lateral sclerosis, with slow progression, long survival, and predominance of lower motor neuron signs at onset, as a triad of distal paresis, muscle atrophy, and hyporeflexia/areflexia, confined to the lower limbs for an extended period of time. Although familial amyotrophic lateral sclerosis is usually associated with a worse prognosis than the sporadic form of the disease, the clinical course of the disease in patients with L144S SOD1 mutation is benign, with slow progression and long survival. This unique case report provides an in-depth clinical analysis of all of the symptomatic members of a family, who were diagnosed with amyotrophic lateral sclerosis in our clinic, including three siblings (two brothers and a deceased sister) with flail leg syndrome and their fraternal aunt, who has been previously misdiagnosed with cervical myelopathy and is living with symptoms of the disease for 15 years. Sanger sequencing of the SOD1 gene was performed in all of the living patients, revealing an L144S (c.434T>C, p.Leu145Ser) heterozygous mutation. The aim of this case report is to increase the physician's awareness of the atypical phenotypes of amyotrophic lateral sclerosis and hopefully, to encourage further research on the factors responsible for delayed disease progression in patients with L144S SOD1 mutation. Frontiers Media S.A. 2023-03-22 /pmc/articles/PMC10073428/ /pubmed/37034065 http://dx.doi.org/10.3389/fneur.2023.1138668 Text en Copyright © 2023 Zapalska, Wrzesień and Stępień. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Neurology
Zapalska, Ewa
Wrzesień, Dominika
Stępień, Adam
Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation
title Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation
title_full Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation
title_fullStr Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation
title_full_unstemmed Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation
title_short Case report: Flail leg syndrome in familial amyotrophic lateral sclerosis with L144S SOD1 mutation
title_sort case report: flail leg syndrome in familial amyotrophic lateral sclerosis with l144s sod1 mutation
topic Neurology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073428/
https://www.ncbi.nlm.nih.gov/pubmed/37034065
http://dx.doi.org/10.3389/fneur.2023.1138668
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