Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG

INTRODUCTION. Sensory ataxia is a frequent symptom in numerous neurological pathologies, being a frequent clinical manifestation in diseases related to genes influencing mitochondrial metabolism, such as POLG. The aim is to describe the differential characteristics of four patients with pathogenic variants in the POLG gene with clinical expression in the form of adult-onset ataxia and sensory neuropathy. PATIENTS AND METHODS. We reviewed the clinical features of patients diagnosed with POLG pathogenic variants from a tertiary hospital. RESULTS. Three men and one woman (mean age: 40 years; 27-46) with no family history were studied with symptoms for 10 years. All patients developed a gait disturbance related to sensory ataxia. All patients had oculomotor abnormalities. The neurophysiological study showed a sensory axonal neuropathy. Brain magnetic resonance imaging studies showed atrophy and cerebellar white matter lesion and muscle magnetic resonance imaging showed fatty substitution in thigh and calf muscles without a specific pattern. A molecular study revealed pathogenic variants in the POLG gene. Conclusions. In cases of adult-onset sensory ataxia, the molecular analysis of the POLG gene should be considered, especially if associated with sensory neuropathy or ophthalmoparesis.