Amyotrophic lateral sclerosis form 9 (ALS9) – presentation of a case report
DOI:
https://doi.org/10.67667/NEU.v24i2.142Keywords:
ALS9, ANG, case reportAbstract
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by a heterogeneous clinical phenotype and genetic background. A major role in its etiopathogenesis is played by genetic predisposition. Currently, mutations in 35 genes and 2 gene loci has been proven for the development of 26 „pure” and 12 „plus” forms. Mutations in ANG (Angiogenin) gene are responsible for the development of the ALS9 form.
In this publication, we present a family consisting of one affected member – a woman (RPT), 63 years old, of Bulgarian ethnicity, with a proven heterozygous mutation c.62C>T, p.Pro21Leu in the ANG gene (ALS9 form). The patient has an age at onset of 60 years and a survival of 29 months. There are no data on occupational risk factors and affected relatives. The first clinical region of involvement is the brainstem, followed by the upper and lower extremities. The neurological status demonstrates bulbar syndrome and syndrome of involvement of UMN and LMN in upper and lower limbs. There is no evidence of cognitive impairment. The heterogeneous clinical and genetic profile of ALS and the variable expressivity of its mutations require dynamic follow-up of the patients and their relatives.
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Copyright (c) 2023 Teodor Angelov, Teodora Chamova, Silvia Cherninkova, Ivailo Tournev
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