AUTOSOMAL DOMINANT SYSTEM DEGENERATION IN PORTUGUESE FAMILIES OF AZORES ISLANDS - NEW GENETIC DISORDER INVOLVING CEREBELLAR, PYRAMIDAL, EXTRAPYRAMIDAL AND SPINAL-CORD MOTOR FUNCTIONS
AUTOSOMAL DOMINANT SYSTEM DEGENERATION IN PORTUGUESE FAMILIES OF AZORES ISLANDS - NEW GENETIC DISORDER INVOLVING CEREBELLAR, PYRAMIDAL, EXTRAPYRAMIDAL AND SPINAL-CORD MOTOR FUNCTIONS
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DOI：
10.1212/wnl.28.7.703
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发表时间：
1978-01-01
期刊：
影响因子：
9.9
通讯作者：
ANDRADE, C
中科院分区：
文献类型：
--
作者：
COUTINHO, P;ANDRADE, C
来自葡萄牙亚速尔群岛的15个家庭的患者[40]进行了研究。每个家庭都受到常染色体显性遗传病的影响。症状开始于20至50岁之间。主要临床表现为共济失调、眼肌麻痹、锥体束征、肌张力障碍、强直和远端肌萎缩。这显然是一种具有可变表型表达的单一遗传疾病。马查多病、黑质棘齿变性伴核性眼肌麻痹和常染色体显性纹状体黑质变性可能是同一遗传病的变异。
Patients [40] in 15 families from the Portuguese Azores Islands were studied. Each family was affected by an autosomal dominant genetic disorder. Symptoms began between ages 20 and 50. Ataxia, ophthalmoplegia, pyramidal signs, dystonia, rigidity and distal muscular atrophy were the major clinical findings. This was apparently a single genetic disease with variable phenotypic expression. Machado disease, nigrospinodentatal degeneration with nuclear ophthalmoplegia, and autosomal dominant striatonigral degeneration may be variations of this same genetic disease.