Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Lehky, Tanya, Grunseich, Christopher
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
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
_version_ 1784620920973819904
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