2型亨廷顿舞蹈症样疾病的表型特征

Phenotypic features of Huntington's disease-like 2.

作者信息

Walker Ruth H, Jankovic Joseph, O'Hearn Elizabeth, Margolis Russell L

机构信息

Department of Neurology, Veterans Affairs Medical Center, Bronx Mount Sinai School of Medicine, New York, New York 10029, USA.

出版信息

Mov Disord. 2003 Dec;18(12):1527-30. doi: 10.1002/mds.10587.

DOI:10.1002/mds.10587

PMID:14673892

Abstract

Huntington's disease-like 2 is an autosomal dominantly inherited disorder due to an expansion of trinucleotide repeats. It resembles classic Huntington's disease in clinical phenotype, inheritance pattern, and neuropathological features. We highlight the clinical features of this disorder, including chorea, dystonia, parkinsonism, and cognitive deficits.

摘要

亨廷顿舞蹈症样2型是一种常染色体显性遗传性疾病，由三核苷酸重复序列扩增引起。它在临床表型、遗传模式和神经病理学特征方面类似于经典的亨廷顿舞蹈症。我们着重介绍了这种疾病的临床特征，包括舞蹈症、肌张力障碍、帕金森症和认知缺陷。