LAUSR

A female patient developed a slowly progressive ataxic gait disorder starting at the age of 15 years. Brain imaging had previously revealed a leukoencephalopathic disorder and important differential diagnoses, such as multiple sclerosis, vitamin B12 deficiency, gangliosidosis, Tay-Sachs disease, Fabry disease, Schindler disease, mucopolysaccharidosis, metachromatic leukodystrophy, Refsum disease and Niemann-Pick disease were ruled out. The family history was negative for neurological disorders. At the time of presentation, the patient was 31 years old and had been using a walking frame for the last year. She had just quit her job in a tourist office because of concentration deficits and she had recently moved to a sheltered community as her motor restrictions had increased. Besides the gait difficulties, she complained of intermittent diplopia, dizziness, balance problems, trembling legs, diffuse paresthesia, and painful joints. Because of chronic headaches she used diverse analgesics on a daily basis. The physical examination detected right sided facial hypesthesia and weakness, delayed consensual light reflexes, a uvula deviation to the right side, mild dysarthria and bilateral hypacusis. She had spastic tetraparesis, predominantly of the legs with increased deep tendon reflexes and left