دورية أكاديمية
[Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation].
| العنوان: | [Involvement of autonomic nervous system since middle age in elderly patient with giant axonal neuropathy caused by novel genetic mutation]. |
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| المؤلفون: | Imoto M; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital., Nakamura K; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital.; Present address: Department of Neurology, Kansai Electric Power Hospital., Inoue K; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital.; Present address: Department of Rehabilitation, National Hospital Organization Osaka Toneyama Medical Center., Ando M; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences., Higuchi Y; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences., Takashima H; Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences., Okuda S; Department of Neurology, Hyogo Prefectural Rehabilitation Central Hospital.; Present address: Department of Neurology, Hyogo Prefectural Kakogawa Medical Center. |
| المصدر: | Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2023 Sep 20; Vol. 63 (9), pp. 566-571. Date of Electronic Publication: 2023 Aug 29. |
| نوع المنشور: | Case Reports; English Abstract; Journal Article |
| اللغة: | Japanese |
| بيانات الدورية: | Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1882-0654 (Electronic) Linking ISSN: 0009918X NLM ISO Abbreviation: Rinsho Shinkeigaku Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: April 1963-: Tōkyō : Nihon Shinkei Gakkai Original Publication: Tōkyō : Nihon Rinshō Shinkei Gakkai, 1960- |
| مواضيع طبية MeSH: | Giant Axonal Neuropathy*/genetics, Aged ; Male ; Humans ; Middle Aged ; Child, Preschool ; Adolescent ; Activities of Daily Living ; Patients ; Autonomic Nervous System ; Mutation, Missense |
| مستخلص: | 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. |
| فهرسة مساهمة: | Keywords: GAN gene; giant axonal neuropathy (GAN); involvement of autonomic nervous system; milder form of GAN |
| تواريخ الأحداث: | Date Created: 20230830 Date Completed: 20230922 Latest Revision: 20230922 |
| رمز التحديث: | 20231215 |
| DOI: | 10.5692/clinicalneurol.cn-001822 |
| PMID: | 37648479 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1882-0654 |
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| DOI: | 10.5692/clinicalneurol.cn-001822 |