Early onset cerebellar ataxia with retained tendon reflexes: a clinical, electrophysiological and computed...

Fourteen patients of Early Onset Cerebellar Ataxia with retained tendon reflexes (EOCA) were prospectively evaluated clinically, electorphysiologically and with CT scan. Their age and duration of symptoms were 18.6 +/- 8.3 years and 7.8 +/- 5.1 years respectively. High consanguinity (91.7%) and positive family history (76.9%) suggested autosomal recessive inheritance. Apart from cerebellar signs and brisk knee jerks in all, other important findings were abnormal ocular movements (mostly impaired saccades) in 92.8%, Babinski's sign (78.6%), brisk ankle jerks (64.3%), spasticity in lower limbs (50%) and impairment of proprioceptive sensations (50%). Neuropsychological tests, done in 12 patients, were abnormal in all. Abnormalities of electroneuromyographic studies were universal, motor conduction parameters (85.7%) being more affected than sensory (78.6%). One or more modalities of evoked potentials were abnormal in 71.4%, that of brainstem auditory evoked response being most frequent (50%), followed by posterior tibial somatosensory evoked potential (SSEP) (46.1%) and median SSEP and visual evoked potential (30.8% each). CT scan (n = 12) showed atrophy of brainstem (91.7%), cerebellar hemisphere and/or vermis (83.3%) and cerebral cortex (33.3%). There was no correlation between the duration of disease and degree of disability or abnormalities of nerve conduction and CT parameters. The rationality of the diagnosis of this recently recognised entity of 'EOCA' in Indian context is discussed.