[Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation].

A 69-year-old man began to experience difficulty with walking at the age of 5 years and started use of a cane at around 13 years, then finally started using a wheelchair at 17 years old. A diagnosis of Charcot-Marie-Tooth disease was previously determined at another hospital, though neither peripheral nerve biopsy nor gene analysis was conducted. He visited our institution at the age of 54 years and irregular outpatient examinations were started, which indicated slowly progressive muscle weakness and sensory disturbance of the limbs, leading to a decline in activities of daily living. Gene analysis at 60 years old identified a novel homozygous missense mutation in the gigaxonin gene, c.1478A>C, p.E493A. Intellectual capacity was preserved and kinky hair was not present, though complications such as vocal cord paralysis, paralytic ileus, and dysarthria were noted starting at age 61. Based on these findings, the patient was diagnosed with a mild form of giant axonal neuropathy.

[Improved instrumental activities of daily living in acquired savant syndrome patient after developing interest in drawing].

We performed examinations of a 73-year-old, right-handed man who developed herpes simplex encephalitis, with cognitive dysfunction including severe Wernicke's aphasia. Although he had never previously been interested in arts, use of a coloring book, recommended by his wife, led him to start drawing. A few years after the onset of brain disease, the patient began to copy pictures of landscapes. The lesion was in the left hemisphere and his work showed a strongly realistic tendency, thus we think that this case demonstrated characteristics of acquired savant syndrome. Along with the increase in drawing ability, instrumental activities of daily living (IADL), such as shopping and use of public transport, were also considerably improved in this patient. On the other hand, results of neuropsychological tests, such as the Standard Language Test of Aphasia, were not improved. We concluded that a sense of accomplishment from the drawing activity and communication with supporters might have led to improvement of IADL in this case.