Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review.

Case reportNeurogenetics· Aug 2026

Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review.

Boyang Su, Ling Li, Xiaoxiao Zheng … Xinhong Feng

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Clinical GeneticsCase reportQ3IF 1.9

Literature review found 58 reported amyotrophic lateral sclerosis cases linked to SQSTM1 gene variants.

Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review.

Boyang Su … Xinhong Feng

Neurogenetics · Aug 2026 · Q3 in Genetics

Methods

We analyzed the clinical features of a patient with amyotrophic lateral sclerosis (amyotrophic lateral sclerosis) carrying a novel variant in the sequestosome 1 (SQSTM1) gene and explored the genotype-phenotype association of SQSTM1 gene variants in combination with previous literature.

n = 58 cases

Results

58

cases

SQSTM1 variants have caused amyotrophic lateral sclerosis in dozens of cases worldwide

n = 58 cases

More results

Whole-exome sequencing was used to screen for amyotrophic lateral sclerosis-related genes, and candidate variants were validated by Sanger sequencing and family analysis.

The patient was a 49-year-old male with progressive weakness in both lower limbs for one year and weakness in the left upper limb for the past three months.

More results

Genetic testing identified a novel heterozygous missense variant, c.355 C > T (p.

We identified a novel SQSTM1 variant, c.355 C > T (p.

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Conclusion

Our literature review further shows that SQSTM1-associated amyotrophic lateral sclerosis predominantly presents with limb onset, with a subset of patients exhibiting frontotemporal dementia or Paget's disease.

Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review.

Clinical significance of SQSTM1 variants in ALS: report of p.Arg119Cys and literature review.

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