Abstract Details

Title Early Onset Ataxia in a Patient with CMT2A2

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) P3 - Poster Session 3 (5:30 PM-6:30 PM)

Poster/Presentation
Number 12-040

Objective To find the cause of the patient’s early onset ataxia

Background This 9 year 8 months old right handed female at the time of initial evaluation, presented with a history of gait difficulties with frequent falls since at least nine months of age, and slurred speech and hand tremors while holding a tray. Her past medical history was significant for global developmental delay. She was attending fourth grade Special ��ɫ�� classes.

Design/Methods On examination she had an ataxic gait, dysarthria, absent deep tendon reflexes and flexor plantar responses. There were no signs of optic atrophy or hearing loss.

Results

Nerve conduction studies were consistent with an axonal neuropathy. Full exome sequencing revealed a heterozygous c.314C>T (p.T105M) mutation in the MFN2 gene in the patient but not in her mother. A fascicular sural nerve biopsy showed a marked decrease of myelinated fibers larger than 6 µm in diameter as compared with an age-matched control. By electron microscopy, clusters of degenerating axonal mitochondria in both myelinated and unmyelinated fibers were frequently found.

Conclusions The phenotypes associated with MFN2 mutations are varied including intellectual disability, optic atrophy, auditory impairment, spinal atrophy with or without hydromyelia and hydrocephalus. We describe now an early onset ataxia with intellectual disability associated with a known MFN2 pathogenic mutation.

Authors/Disclosures
Ricardo E. Madrid, MD, FAAN (NYS Institute for Basic Research) PRESENTER	No disclosure on file

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