- 著者
- 横手 顕 合馬 慎二 高橋 和範 原 文彦 吉田 邦広 坪井 義夫
- 出版者
- 日本神経学会
- 雑誌
- 臨床神経学 (ISSN:0009918X)
- 巻号頁・発行日
- vol.60, no.6, pp.420-424, 2020 (Released:2020-06-06)
- 参考文献数
- 13
- 被引用文献数
- 1 1
症例は64歳,女性.40歳頃より軽度のコミュニケーション障害が出現したが日常生活に支障はなかった.59歳から健忘,幻覚,妄想といった認知機能障害が出現し,約5年の経過で錐体路,錐体外路症候が出現し,歩行困難となった.脳MRIにて大脳の萎縮,脳梁の菲薄化,両側前頭葉優位に大脳白質病変を認めた.コロニー刺激因子1受容体(colony stimulating factor 1 receptor; CSF1R )のexon 18内にp.R777Qの変異を認めた.明らかな家族歴はなく,神経軸索スフェロイド形成を伴う遺伝性びまん性白質脳症と診断した.本症例のように軽度の精神症状を呈して長期期間経過した臨床経過は希少であり報告する.
1 0 0 0 OA 皮質性小脳萎縮症とは何か
- 著者
- 吉田 邦広
- 出版者
- 日本神経治療学会
- 雑誌
- 神経治療学 (ISSN:09168443)
- 巻号頁・発行日
- vol.35, no.3, pp.320-325, 2018 (Released:2018-12-25)
- 参考文献数
- 29
“Cortical cerebellar atrophy (CCA)” is a neuropathologically–defined disease entity, which is characterized by pure cerebello–olivary degeneration. Corresponding to the neuropathological findings, CCA patients are believed to show purely cerebellar ataxic syndrome, however, some cases with pathologically–proven CCA have been reported to show extracerebellar features such as involuntary movements, cognitive decline or decreased vibration sense. On the other hands, some cases with a clinical diagnosis of CCA have revealed affected lesions outside the cerebello–olivary system by postmortem examinations. These facts suggest the so–called “CCA” may have a clinical and neuropathological heterogeneity. The heterogeneity is partly due to the uncertainty of the diagnosis of CCA. There is no specific biomarker for cerebello–olivary degeneration, therefore, the diagnosis of CCA is largely dependent on the exclusion of other diseases with cerebellar ataxia at present. Firstly, we should exclude olivopontocerebellar atrophy (OPCA, alternatively, multiple system atrophy with predominant cerebellar ataxia: MSA–C) because it accounts for approximately 60–70% of sporadic ataxias in Japan. It is sometimes quite difficult to distinguish OPCA (MSA–C) in the early stage of disease (less than 5 years from onset) from CCA. Secondly, hereditary ataxias need to be excluded. It is known that 10–20% of apparently sporadic cases are proven to have one of common autosomal dominant cerebellar ataxias (especially, SCA6, SCA31 in Japan) when genetic testing is conducted. Further, next generation sequencing has increasingly identified rare disease–causing variants in apparently sporadic cases. Lastly, secondary ataxias should be addressed by means of a detailed medical history and physical examination, as well as a focused diagnostic evaluation. Acquired causes for cerebellar ataxia include autoimmune–mediated, toxic (alcohol, drugs), demylinating, vascular, metabolic, infectious (parainfectious), others (PSP–C, prion disease, superficial siderosis, etc.). Approach to the acquired causes is very important because some of them are medically actionable. Here we have replaced the neuropathologically–based nomenclature “CCA” with the clinical–based one “idiopathic cerebellar ataxia (IDCA)” to refine sporadic, degenerative cerebellar ataxia of adult–onset and proposed its diagnostic criteria.