| Title |
Rapidly progressing and early-onset forms of amyotrophic lateral sclerosis caused by a novel SOD1 variant in a Lithuanian family |
| Authors |
Valančius, Domantas ; Burnytė, Birutė ; Masaitienė, Raminta ; Morkūnienė, Aušra ; Klimašauskienė, Aušra |
| DOI |
10.1212/NXG.0000000000200217 |
| Full Text |
|
| Is Part of |
Neurology genetics.. Philadelphia : Lippincot Williams & Wilkins. 2024, vol. 10, iss. 6, art. no. e200217, p. [1-4].. eISSN 2376-7839 |
| Keywords [eng] |
SOD1 ; amyotrophic lateral sclerosis ; ALS ; rapidly progressing ; early onset |
| Abstract [eng] |
Objectives To describe a novel familial variant of superoxide dismutase 1 (SOD1)-associated amyotrophic lateral sclerosis (ALS) in a Lithuanian family, highlighting its variable progression and implications for treatment inclusion criteria. Methods This study presents the clinical and genetic findings of a family with the novel SOD1 variant, including one member diagnosed with early-onset ALS (onset <40 years) and one with a particularly rapidly progressing course of ALS. Results The SOD1 variant NM_000454.5:c.446T>C, NP_000445.1:p.(Val149Ala) was identified in affected family members and 4 asymptomatic members aged 32–56 years. We present detailed disease course of the affected family members obtained during follow-up. Clinically, this variant is associated with variable disease progression, with the time from symptom onset to death ranging from 5 to 77 months. Discussion The novel SOD1 variant p.Val149Ala in this Lithuanian family causes ALS of variable onset and course, including a case of early-onset ALS and one case of rapidly progressing ALS, necessitating recognition by the scientific community and development of tailored therapeutic approaches. |
| Published |
Philadelphia : Lippincot Williams & Wilkins |
| Type |
Journal article |
| Language |
English |
| Publication date |
2024 |
| CC license |
|
