Nasu-Hakola病为少见的神经变性疾病,呈常染色体隐性遗传,男女均可发病,一般在20岁出现腕、踝部疼痛、触痛,骨折,30-40岁出现早老性痴呆。缓慢发病,逐渐进展,出现神经精神病表现和骨骼异常,某些病人可无前驱性骨骼损害。神经影像学可检出无症状的基底节钙化和脑萎缩。骨骼活检有较大诊断价值。无有效治疗,多死于肺部感染。 Nasu-Hakola disease is a rare neurodegenerative disease, autosomal recessive, both men and women can occur, usually in the 20-year-old wrist, ankle pain, tenderness, fractures, 30-40 years old appear Alzheimer’s disease. Slow onset, gradual progress, neuropsychiatric manifestations and skeletal abnormalities, some patients may be no precursor to bone damage. Neuroimaging can detect asymptomatic basal ganglia calcification and brain atrophy. Skeletal biopsy has greater diagnostic value. No effective treatment, and more died of lung infection.