期刊
JOURNAL OF NEUROLOGY
卷 251, 期 7, 页码 849-852出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00415-004-0445-9
关键词
haemochromatosis; movement disorder; iron; chorea; Huntington's disease
Hereditary haemochromatosis (HH) is a common autosomal recessive systemic iron overload disorder in which CNS manifestations, particularly movement disorders, have been reported. We report a 63-year-old woman with familial HH with a four-year history of progressive gait disturbance, chorea, and mild cervical and laryngeal dystonia. Her movement disorder was thought to be related to the haemochromatosis. On further investigation, analysis for the Huntington's disease expansion was positive. A review of the seven published cases of movement disorders associated with HH as well as data concerning brain iron deposition in this condition leads us to debate the causal link between movement disorders and HH. We suggest that movement disorders are rare in association with HH, and that such patients should be thoroughly investigated for another cause for their movement disorder.
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