scholarly journals DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

2004 ◽  
Vol 74 (6) ◽  
pp. 1128-1135 ◽  
Author(s):  
Ying-Zhang Chen ◽  
Craig L. Bennett ◽  
Huy M. Huynh ◽  
Ian P. Blair ◽  
Imke Puls ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Gene Mutations ◽  
Rna Helicase ◽  
Helicase Gene ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Alsin Related Disorders: Literature Review and Case Study with Novel Mutations

2014 ◽  
Vol 2014 ◽  
pp. 1-5 ◽  
Author(s):  
Filipa Flor-de-Lima ◽  
Mafalda Sampaio ◽  
Nahid Nahavandi ◽  
Susana Fernandes ◽  
Miguel Leão
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Hereditary Spastic Paraplegia ◽  
Gene Mutations ◽  
Heterozygous Mutation ◽  
Sequencing Analysis ◽  
Primary Lateral Sclerosis ◽  
Spastic Paraplegia ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Primary Lateral ◽  
Lateral Sclerosis

Mutations in theALS2gene cause three distinct disorders: infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and autosomal recessive juvenile amyotrophic lateral sclerosis. We present a review of the literature and the case of a 16-year-old boy who is, to the best of our knowledge, the first Portuguese case with infantile ascending hereditary spastic paraplegia. Clinical investigations included sequencing analysis of the ALS2 gene, which revealed a heterozygous mutation in exon 5 (c.1425_1428del p.G477Afs*19) and a heterozygous and previously unreported variant in exon 3 (c.145G>A p.G49R). We also examined 42 reported cases on the clinical characteristics and neurophysiological and imaging studies of patients with known ALS2 gene mutations sourced from PubMed. This showed that an overlap of phenotypic manifestations can exist in patients with infantile ascending hereditary spastic paraplegia, juvenile primary lateral sclerosis, and juvenile amyotrophic lateral sclerosis.

scholarly journals Juvenile Amyotrophic Lateral Sclerosis: A Review

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1935
Author(s):  
Tanya Lehky ◽  
Christopher Grunseich
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Literature Review ◽  
Motor Neuron ◽  
Gene Mutations ◽  
Lower Motor Neuron ◽  
Specific Gene ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Autosomal Dominant Fashion ◽  
Hereditary Patterns ◽  
Lateral Sclerosis

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.

HEREDITARY MOTOR SYSTEM DISEASES (CHRONIC JUVENILE AMYOTROPHIC LATERAL SCLEROSIS)

Brain ◽  
1990 ◽  
Vol 113 (2) ◽  
pp. 347-363 ◽  
Author(s):  
MONGI BEN HAMIDA ◽  
FAYÇAL HENTATI ◽  
CHRISTIANE BEN HAMIDA
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor System ◽  
Hereditary Motor ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

Challenging diagnosis of juvenile amyotrophic lateral sclerosis FUS-related during COVID-19 pandemic

2021 ◽  
Vol 429 ◽  
pp. 119387
Author(s):  
Giorgia Bruno ◽  
Francesco Barbato ◽  
Giovanni Colacicco ◽  
Domenico Ippolito ◽  
Antonio Di Masi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Juvenile Amyotrophic Lateral Sclerosis ◽  
Lateral Sclerosis

scholarly journals Glial Cells—The Strategic Targets in Amyotrophic Lateral Sclerosis Treatment

2020 ◽  
Vol 9 (1) ◽  
pp. 261 ◽  
Author(s):  
Tereza Filipi ◽  
Zuzana Hermanova ◽  
Jana Tureckova ◽  
Ondrej Vanatko ◽  
Miroslava Anderova
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Current Knowledge ◽  
Gene Mutations ◽  
Cell Types ◽  
In Vivo Models ◽  
Cell Therapies ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease, which is characterized by the degeneration of motor neurons in the motor cortex and the spinal cord and subsequently by muscle atrophy. To date, numerous gene mutations have been linked to both sporadic and familial ALS, but the effort of many experimental groups to develop a suitable therapy has not, as of yet, proven successful. The original focus was on the degenerating motor neurons, when researchers tried to understand the pathological mechanisms that cause their slow death. However, it was soon discovered that ALS is a complicated and diverse pathology, where not only neurons, but also other cell types, play a crucial role via the so-called non-cell autonomous effect, which strongly deteriorates neuronal conditions. Subsequently, variable glia-based in vitro and in vivo models of ALS were established and used for brand-new experimental and clinical approaches. Such a shift towards glia soon bore its fruit in the form of several clinical studies, which more or less successfully tried to ward the unfavourable prognosis of ALS progression off. In this review, we aimed to summarize current knowledge regarding the involvement of each glial cell type in the progression of ALS, currently available treatments, and to provide an overview of diverse clinical trials covering pharmacological approaches, gene, and cell therapies.

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