2 SISTERS WITH GENERALIZED DYSTONIA ASSOCIATED WITH HOMOCYSTINURIA

被引：20

作者：

BERARDELLI, A

THOMPSON, PD

ZACCAGNINI, M

GIARDINI, O

DEUFEMIA, P

MASSOUD, R

MANFREDI, M

机构：

[1] Department of Neurological Sciences, University of Rome ‘La Sapienza, ’, Rome

[2] Institute of Clinical Pediatrics, University of Rome ‘La Sapienza, ’, Rome

[3] Department of Biology, Second University of Rome 'tor Vergata', Rome

[4] Institute of Neurology, London

来源：

MOVEMENT DISORDERS | 1991年 / 6卷 / 02期

关键词：

Dystonia; Homocystinuria;

D O I：

10.1002/mds.870060213

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.

引用

页码：163 / 165

页数：3

共 7 条

[1]

Hagbert B, Hambreus L, Bensch K., A case of homocystinuria with dystonic neurologic syndrome, Neuropaedriatrie, 1, pp. 337-343, (1970)

[2]

Davous P, Rondot P., Homocystinuria and dystonia, J Neurol Neurosurg Psychiatry, 46, (1988)

[3]

Kempster PA, Brenton DP, Gale AN, Stern GM., Dystonia in homocystinuria, J Neurol Neurosurg Psychiatry, 51, pp. 859-862, (1983)

[4]

Goldstein JL, Campbell BK, Gartler SM., Cystathionine synthase activity in human lymphocytes: induction by phythohemagglutini, J Clin Invest, 51, (1972)

[5]

Carson NAJ, Cusworth DC, Dent CE, Field CMB, Neill DW, Westall RG., Homocystinuria: a new inborn error of metabolism associated with mental deficiency, Arch Dis Child, 38, pp. 425-436, (1963)

[6]

Marsden CD., Investigation of dystonia, Adv Neurol, 50, pp. 35-44, (1988)

[7]

Calne DB, Lang AE., Secondary dystonia, Adv Neurol, 50, pp. 9-33, (1988)

← 1 →