Objective: We present two case reports – the first patient originally diagnosed with typical essential tremor and the second one with high suspicion on spinocerebellar ataxia.

Methods: The first patient was a 62 year-old man, observed for 15 years for essential tremor of upper extremities with positive family history. Therapy with primidone had only partial effect. Tremor progressed in the past two years, accompanied with new slight worsening of gait. MRI of the brain showed distinct atrophy in cerebellar region, neurodegenerative changes of white matter. On clinical examination postural and intentional tremor of hands, cerebellar symptoms, and slight shuffling gait were present. Additional workup studies (biochemistry, CSF test, neurophysiological testing, X-ray) brought no explanation to the cause of clinical deterioration. The second patient was a 56 year-old man with development of upper limb tremor during past 5 years followed by oculomotor problems, progressive instability of gait and paresthesias of lower extremities. The patient complains about impaired memory. Negative internal examination including laboratory results in history. Oculomotor disorder, ataxia, tremor, low reflexes, decreased perception, pyramidal signs and cerebellar gait was found during clinical neurological examination. Psychological tests showed partial deterioration of cognitive functions, MRI imaging with atrophy, slightly more noticable in cerebellum,. Molecular-genetic testing for spinocerebelar ataxias were negative, EMG showed polyneuropathy and evoked potentials were abnormal.

Results: Patient 1 : Molecular-genetic testing was positive for syndrome of fragile X chromozome with premutaion in FMR1 gene, the patient is a carrier of instable allelewith a risk of expanding to the full mutation. Patient 2: A follow-up laboratory examinations in our lab showed extreme elevation of GGT, the patient´s family confirmed higher alcohol consumtion. After confronting the laboratory results the patient admits long term regular consumption of alcohol (mostly spirits).

Conclusions: The results indicate the necessity of thorough obtaining of history data from the patient and their objective verification and also the high significance of genetic testing and magnetic resonance imaging wiht careful examination and clinical correlation of all data.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/neurodegenerative-disorders-with-atypical-course-and-cause-diagnostic-contribution-of-genetics-and-magnetic-resonance-imaging-two-case-reports/