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• Vol.63 No.9
• CLINICA NEUROL, 63: 566−571, 2023
• Vol.63 No.9 contents

Case Report

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

Makiko Imoto, M.D.¹⁾, Kota Nakamura, M.D.¹⁾²⁾, Kimiko Inoue, M.D.¹⁾³⁾, Masahiro Ando, M.D., Ph.D.⁴⁾, Yujiro Higuchi, M.D., Ph.D.⁴⁾, Hiroshi Takashima, M.D., Ph.D.⁴⁾ and Shiho Okuda, M.D., Ph.D.¹⁾⁵⁾

¹⁾ Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital
²⁾ Present address: Department of Neurology, Kansai Electric Power Hospital
³⁾ Present address: Department of Rehabilitation, National Hospital Organization Osaka Toneyama Medical Center
⁴⁾ Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
⁵⁾ Present address: Department of Neurology, Hyogo Prefectural Kakogawa Medical Center

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.
Full Text of this Article in Japanese PDF (1437K)

(CLINICA NEUROL, 63: 566−571, 2023)
key words: giant axonal neuropathy (GAN), milder form of GAN, GAN gene, involvement of autonomic nervous system

(Received: 30-Nov-22)