Juvenile amyotrophic lateral sclerosis caused by a mutation in the SPTLC2 gene: case presentation
Luizat M. Abdullaeva,
Alexey L. Kurenkov,
Lyudmila M. Kuzenkova,
Anastasiya A. Lyalina,
Victoria A. Ioksha https://doi.org/10.46563/2686-8997-2023-4-4-208-214
EDN: nikrvo
Abstract
Juvenile amyotrophic lateral sclerosis (ALS) is a rare group of motor neuron diseases, with the age of onset up to 25 years. Juvenile ALS more commonly has genetic origin vs. sporadic forms of ALS that develop in adulthood. Genetic analysis of these cases with early onset makes it possible to identify the genes responsible for the disease. Here we present a case of a rare variant of juvenile ALS caused due to the SPTLC2 gene mutation.
Cases with early disease onset are characterized by slow progression and variable phenotype, which often makes accurate diagnosis challenging. Therefore patients with combined upper and lower motor neuron disorders aged under 25 years should undergo comprehensive examination, in particular to identify gene mutations.
Contribution:
Abdullaeva L.M. — concept and design, text writing, editing;
Kurenkov A.L. — concept and design, text writing, editing;
Kuzenkova L.M. — editing;
Lyalina A.A. — editing;
Ioksha V.A. — editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.
Acknowledgements. The study had no sponsorship.
Conflict of interest. The authors declare no conflict of interest.
Received: October 10, 2023
Accepted: November 11, 2023
Published: December 28, 2023
About the Authors
Luizat M. Abdullaeva
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Junior research assistant of the laboratory of rare hereditary childhood disorders of the Medical and Genetic Center, Neurologist of the Center of Child psychoneurology, National Medical Research Center of Children’s Health, Moscow, 119991, Russian Federation
e-mail: instorm@inbox.ru
Alexey L. Kurenkov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Lyudmila M. Kuzenkova
National Medical Research Center for Children’s Health; I.M. Sechenov First Moscow State Medical University of the Ministry of Health of the Russian Federation (Sechenov University)
Russian Federation
Russian Federation
Anastasiya A. Lyalina
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Victoria A. Ioksha
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
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Review
For citations:
Abdullaeva L.M., Kurenkov A.L., Kuzenkova L.M., Lyalina A.A., Ioksha V.A. Juvenile amyotrophic lateral sclerosis caused by a mutation in the SPTLC2 gene: case presentation. L.O. Badalyan Neurological Journal. 2023;4(4):208-214. (In Russ.) https://doi.org/10.46563/2686-8997-2023-4-4-208-214. EDN: nikrvo
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