Treatable Causes of Cerebellar Ataxia

By , 2015年5月4日 10:06 AM

治療可能な小脳失調症についての総説が、2015年4月15日発行の Movement disorders誌に掲載されていました。

Treatable causes of cerebellar ataxia


Table 1: どのような小脳失調症にどのような徴候を合併していれば、どのような病態を考えるか

Helpful diagnostic signs

Table 1. Helpful diagnostic signs

Table 2: 成人患者での初期評価に推奨される検査と、それで異常だった場合に疑われる病態

Table 3: 成人発症の失調症で二次評価に推奨される検査と、それで異常だった場合に疑われる病態

Table 4: 傍腫瘍性失調症と抗体

Table 5: 成人発症の小脳失調症における有用な MRI所見

小脳失調の原因は多岐に渡るのですが、何か別の徴候を伴っていれば鑑別をかなり絞り込むことが可能です。そういう意味では、特に Table 1は役立つのではないかと思います。


Ataxia with Vitamin E Deficiency: vitamin E (800 mg/day)

Abetalipoproteinemia: vitamin E (100-300 mg/kg/day), vitamin A (100-400 IU/kg/day)

Cerebrotendinous Xanthomatosis: chenodeoxycholic acid (240 mg three times per day)

Niemann-Pick Type C Disease:miglustat (200 mg three times per day), cyclodextrin

Refsum’s Deisease: 食事指導 (phytanic acidを 10 mg/dayを上限に抑える)

Glucose Transporter Type 1 Deficiency: ketogenic diet

Episodic Ataxia Type 2: acetazolamide(250-100 mg/day), 4-aminopyridine

Superficial Central Nervous System Siderosis: deferiprone (現在 phase IV試験, NCT 01284127)

Gluten Ataxia: immunoglobulin (IVIG), corticosteroids

 Ataxic Variant of Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis: High-dose intravenous methylprednisolone followed by oral predonisone taper

Autosomal Recessive Cerebellar Ataxia due to Coenzyme Q10 deficiency: CoQ10 supplementation

Friedreich’s Ataxia: Therapeutic strategies used to address the primary mechanism of injury have included 1) increase frataxin levels on the transcriptional level by histone decetylase (HDAC) inhibitors or the protein level by recombinant human erythropoietin; 2) use antioxidants such as co-enzyme Q10, its homoloidebenone, and vitamin E; 4) lower mitochondrial iron stores with deferiprone; and 5) improve energy metabolism by L-carnitine supplementation.

Paraneoplastic Cerebellar Degeneration: immunoglobulin G, corticosteroids, cyclophosphamide, tacrolimus, rituximab, mycophenolate, and plasma exchange, in conjunction with sequential or associated chemotherapy and surgical resection of identified tumors.



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