Friedreich's ataxia in the elderly

Area of Science:

• Neurology
• Genetics
• Geriatrics

Background:

• Friedreich's ataxia is a common, autosomal recessive hereditary ataxia typically presenting in childhood or adolescence.
• The etiology of Friedreich's ataxia is largely unknown.

Observation:

• A 91-year-old female presented with a 5-year history of progressive ataxia.
• Cranial MRI revealed mild cerebellar and moderate cerebral atrophy.
• The patient had a strong family history, with affected siblings and paternal relatives.

Findings:

• The patient's presentation and family history were consistent with late-onset Friedreich's ataxia.
• This represents a unique case, potentially the only reported instance of Friedreich's ataxia in such an elderly individual.

Implications:

• This case expands the known clinical spectrum of Friedreich's ataxia, suggesting later onset is possible.
• Further research into genetic modifiers may elucidate the mechanisms behind late-onset presentations.