scholarly journals Juvenile Amyotrophic Lateral Sclerosis: A Review

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 1935
Author(s):  
Tanya Lehky ◽  
Christopher Grunseich

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.

2010 ◽  
Vol 121 ◽  
pp. S145
Author(s):  
F. Baumann ◽  
R.D. Henderson ◽  
S.E. Rose ◽  
A. Pettitt ◽  
K. Pannek ◽  
...  

Neurogenetics ◽  
2012 ◽  
pp. 136-147
Author(s):  
Christopher E. Shaw ◽  
Jemeen Sreedharan ◽  
Caroline A. Vance ◽  
Ammar Al-Chalabi ◽  
Nicholas Wood

Neurology ◽  
1994 ◽  
Vol 44 (6) ◽  
pp. 1101-1101 ◽  
Author(s):  
J.J.M. Kew ◽  
D. J. Brooks ◽  
R. E. Passingham ◽  
J. C. Rothwell ◽  
R. S.J. Frackowiak ◽  
...  

2004 ◽  
Vol 74 (6) ◽  
pp. 1128-1135 ◽  
Author(s):  
Ying-Zhang Chen ◽  
Craig L. Bennett ◽  
Huy M. Huynh ◽  
Ian P. Blair ◽  
Imke Puls ◽  
...  

2020 ◽  
Vol 131 (1) ◽  
pp. 96-105 ◽  
Author(s):  
Emel Oguz Akarsu ◽  
Nermin Gorkem Sirin ◽  
Elif Kocasoy Orhan ◽  
Bahar Erbas ◽  
Hava Ozlem Dede ◽  
...  

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