This 55-year-old man was admitted to the hospital with an insidious onset, progressive backward fall (due to severe truncal ataxia), dysarthria, stiffness in extremities, distal dominant muscle wasting along with behavioural changes and urinary incontinence. Clinical assessment indicated mild cognitive decline (Mini-Mental State Examination 22/27) with cerebellar, pyramidal and peripheral nerves involvement. On investigations, nerve conduction studies revealed symmetrical, sensorimotor peripheral neuropathy affecting both lower limbs. Brain and whole spine MRI revealed widespread cerebral and mild cerebellar atrophy, pons and medulla volume loss, and a normal spinal cord. Transthoracic echocardiography revealed concentric left ventricular hypertrophy. His gene analysis revealed eight GAA repeats on allele 1, and 37 GAA repeats on allele 2 in the first intron of the frataxin gene. Considering his clinical profile and genetic analysis, he was diagnosed as a case of very late-onset Friedreich’s ataxia with likely compound heterozygous genotype.
- brain stem / cerebellum
- spinal cord
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Contributors Conception or design of the work: TAV, HRG, RP and CG. Data collection: TAV, HRG, RP and CG. Data analysis and interpretation: TAV, HRG, RP and CG. Drafting the article: TV, HRG, RP and CG. Critical revision of the article: TAV, HRG, RP and CG. Final approval of the version to be published: TAV, HRG, RP and CG. The manuscript has been read and approved by all the authors that the requirements for authorship as stated earlier in this document have been met, and that each author believes that the manuscript represents honest work.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Provenance and peer review Not commissioned; externally peer reviewed.