Neuroacanthocytosis and aprebetalipoproteinemia

被引：12

作者：

Bohlega, S

Riley, W

Powe, J

Baynton, R

Roberts, G

机构：

[1] King Faisal Specialist Hosp & Res Ctr, Dept Neurosci, Riyadh 11211, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Radiol, Riyadh 11211, Saudi Arabia

[3] King Faisal Specialist Hosp & Res Ctr, Dept Pathol & Lab Med, Riyadh 11211, Saudi Arabia

来源：

NEUROLOGY | 1998年 / 50卷 / 06期

关键词：

D O I：

10.1212/WNL.50.6.1912

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

A 30-year-old woman presented with a progressive neurologic disorder characterized by seizures, buccolingual dyskinesias, orofacial ties, choreiform movements, atrophy, and areflexia. Investigations revealed normal lipid profile except for aprebetalipoproteinemia. Phase-contrast and electron microscopy showed 35 to 40% acanthocytes. MRI and (18)fluorodeoxyglucose-PET studies showed caudate atrophy and hypometabolism. The phenotype of this patient is neuroacanthocytosis and its association with aprebetalipoproteinemia may represent a new subentity of the disorder.

引用

页码：1912 / 1914

页数：3

共 10 条

[1] PRESYNAPTIC AND POSTSYNAPTIC STRIATAL DOPAMINERGIC FUNCTION IN NEUROACANTHOCYTOSIS - A POSITRON EMISSION TOMOGRAPHIC STUDY [J].