MSTO1 Gene Variants and Mitochondrial Dysfunction in a Mild Cerebellar Ataxia Case

31 cases of MSTO1-related mitochondrial disorder have been reported globally. The dataset is a clinical case study describing a patient with adult-onset cerebellar ataxia carrying two novel MSTO1 gene variants, authored by Bin Wu and last updated in April 2026. It details clinical, molecular, and biochemical investigations linking the variants to mitochondrial dysfunction.

Use Cases

• Study genotype-phenotype correlations in MSTO1-related disorders based on the comparative analysis of mitochondrial dysfunction severity.
• Investigate the pathogenicity of novel genetic variants based on integrated clinical and functional approaches described.
• Analyze the phenotypic spectrum of mitochondrial disorders based on the description of a milder, adult-onset form of cerebellar ataxia.
• Benchmark mitochondrial function metrics based on described measurements of protein expression, mtDNA depletion, and respiratory capacity.

Strengths

• Includes a specific global case count (31 reported cases) for context on rarity.
• Describes two novel, specific genetic variants (c.756A>G and c.1339G>A) with associated functional study results.
• Provides a comparative analysis with a previously reported case, suggesting genotype-phenotype correlations.

Limitations

• Row count is unknown, which may limit suitability assessment.
• Column-level documentation is absent; field semantics must be inferred after download.
• The dataset is very small (19.2 KB), indicating limited scope, likely a single case report.

Provenance

Source

figshare

Collection Method

Comprehensive clinical, molecular, and biochemical investigations in a single patient.

Time Range

Study period not specified; publication date is 2026.

Freshness

Last updated 2026-04 13 05:48:49; freshness should be verified.

Geography

Patient location not specified.