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

A clinical case study describes a patient with adult-onset cerebellar ataxia carrying two novel compound heterozygous variants in the MSTO1 gene. The 15.9 KB document, authored by Bin Wu and last updated in April 2026, includes clinical, molecular, and biochemical findings linking these variants to mitochondrial dysfunction. The study broadens the known phenotypic spectrum of MSTO1-related disorders to include a milder form.

Use Cases

• Comparative analysis of mitochondrial dysfunction severity based on the described functional study results
• Investigation of genotype-phenotype correlations in MSTO1-related disorders based on the reported clinical and molecular data
• Benchmarking variant pathogenicity assessment methods based on the integrated clinical and functional approach described

Strengths

• Focuses on a very rare condition, with only 31 cases reported globally as stated in the description
• Includes novel genetic variants (c.756A>G and c.1339G>A) with associated functional validation
• Document is openly licensed under CC-BY-4.0

Limitations

• Row count is unknown, which may limit suitability assessment
• Column-level documentation is absent; field semantics must be inferred after download
• Data is contained in a 15.9 KB DOCX file, indicating a very limited scope focused on a single case study

Provenance

Source

figshare

Collection Method

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

Time Range

Study period not specified; publication date is 2026.

Freshness

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

Geography

Patient location not specified.