A patient with pantothenate kinase-associated neurodegeneration and supranuclear gaze palsy

被引：7

作者：

Bozi, Maria ^{[1
,2
]}

Matarin, Mar ^{[3
]}

Theocharis, Ioannis ^{[4
]}

Potagas, Costas ^{[5
]}

Stefanis, Leonidas ^{[1
]}

机构：

[1] Univ Athens, Sch Med, Dept Neurol 2, GR-11527 Athens, Greece

[2] Gen Hosp Syros, Syros, Greece

[3] NIA, Mol Genet Unit, NIH, Bethesda, MD 20892 USA

[4] Iasso Gen Hosp, Dept Ophthalmol, Athens, Greece

[5] Univ Athens, Sch Med, Dept Neurol 1, GR-11527 Athens, Greece

来源：

CLINICAL NEUROLOGY AND NEUROSURGERY | 2009年 / 111卷 / 08期

关键词：

PKAN; PANK2; mutation; Phenotype; Retinopathy; Eye movement abnormalities; Supranuclear gaze palsy; HALLERVORDEN-SPATZ-SYNDROME; BRAIN IRON ACCUMULATION; PANK2; MUTATIONS; DISEASE; ABNORMALITIES; PARKINSONISM;

D O I：

10.1016/j.clineuro.2009.04.007

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Pantothenate kinase-associated neurodegeneration (PKAN) is a genetic disease with childhood onset characterized clinically by dystonia, parkinsonism, pyramidal signs, visual failure and mental retardation. Progression is usually relentless culminating in severe disability and death within 15 years of onset. Eye movement abnormalities have been described in patients with PKAN including slowed vertical saccades and saccadic vertical pursuit. We here report a patient with PKAN and supranuclear gaze palsy broadening the phenotypic spectrum of the disease. (C) 2009 Published by Elsevier B.V.

引用

页码：688 / 690

页数：3

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