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Juvenile Amyotrophic Lateral Sclerosis: A Review
Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701111/ https://www.ncbi.nlm.nih.gov/pubmed/34946884 http://dx.doi.org/10.3390/genes12121935 |
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author | Lehky, Tanya Grunseich, Christopher |
author_facet | Lehky, Tanya Grunseich, Christopher |
author_sort | Lehky, Tanya |
collection | PubMed |
description | Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant fashion. Disease prognosis varies from rapidly progressive to an indolent course. Distinct clinical features may emerge with specific gene mutations in addition to the clinical finding of combined upper and lower motor neuron degeneration. In conclusion, patients presenting with combined upper and lower motor neuron disorders before age 25 should be carefully examined for genetic mutations. Hereditary patterns and coexisting features may be useful in determining prognosis. |
format | Online Article Text |
id | pubmed-8701111 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-87011112021-12-24 Juvenile Amyotrophic Lateral Sclerosis: A Review Lehky, Tanya Grunseich, Christopher Genes (Basel) Review Juvenile amyotrophic lateral sclerosis (JALS) is a rare group of motor neuron disorders with gene association in 40% of cases. JALS is defined as onset before age 25. We conducted a literature review of JALS and gene mutations associated with JALS. Results of the literature review show that the most common gene mutations associated with JALS are FUS, SETX, and ALS2. In familial cases, the gene mutations are mostly inherited in an autosomal recessive pattern and mutations in SETX are inherited in an autosomal dominant fashion. Disease prognosis varies from rapidly progressive to an indolent course. Distinct clinical features may emerge with specific gene mutations in addition to the clinical finding of combined upper and lower motor neuron degeneration. In conclusion, patients presenting with combined upper and lower motor neuron disorders before age 25 should be carefully examined for genetic mutations. Hereditary patterns and coexisting features may be useful in determining prognosis. MDPI 2021-11-30 /pmc/articles/PMC8701111/ /pubmed/34946884 http://dx.doi.org/10.3390/genes12121935 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Lehky, Tanya Grunseich, Christopher Juvenile Amyotrophic Lateral Sclerosis: A Review |
title | Juvenile Amyotrophic Lateral Sclerosis: A Review |
title_full | Juvenile Amyotrophic Lateral Sclerosis: A Review |
title_fullStr | Juvenile Amyotrophic Lateral Sclerosis: A Review |
title_full_unstemmed | Juvenile Amyotrophic Lateral Sclerosis: A Review |
title_short | Juvenile Amyotrophic Lateral Sclerosis: A Review |
title_sort | juvenile amyotrophic lateral sclerosis: a review |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8701111/ https://www.ncbi.nlm.nih.gov/pubmed/34946884 http://dx.doi.org/10.3390/genes12121935 |
work_keys_str_mv | AT lehkytanya juvenileamyotrophiclateralsclerosisareview AT grunseichchristopher juvenileamyotrophiclateralsclerosisareview |