Heterozygous APTX mutation associated with atypical multiple system atrophy-like phenotype: A case report

Area of Science:

• Neurogenetics
• Neurodegenerative Diseases
• Ataxia Syndromes

Background:

• Multiple system atrophy Parkinsonism (MSA-P) is a rare neurodegenerative disorder.
• Ataxia with oculomotor apraxia type 1 (AOA1) is typically caused by homozygous mutations in the APTX gene.

Observation:

• A 73-year-old patient presented with an atypical MSA-P-like phenotype.
• This patient carried a monoallelic (one-sided) p. W279X mutation in the APTX gene.

Findings:

• The identified monoallelic APTX mutation is unusual, as homozygous mutations usually cause AOA1.
• This suggests a potential role for rare monoallelic APTX variants in modifying MSA risk or phenotype.

Implications:

• This case highlights the complex genetic factors potentially underlying neurodegenerative diseases.
• Further research into rare variants in genes like APTX may reveal novel insights into MSA pathogenesis.
• Investigating monoallelic variants could lead to a better understanding of atypical presentations in neurodegenerative disorders.