Genetic, clinical, and imaging characterization of one patient with late-onset, slowly progressive, pantothenate kinase-associated neurodegeneration

被引：27

作者：

Antonini, A

Goldwurm, S

Benti, R

Prokisch, H

Ebhardt, M

Cilia, R

Zini, M

Righini, A

Cossu, G

Pezzoli, G

机构：

[1] Inst Clin Perfezionamento, Parkinson Inst, I-20126 Milan, Italy

[2] Inst Clin Perfezionamento, Parkinson Inst & Neuroradiol, I-20126 Milan, Italy

[3] IRCCS, Osped Maggiore, Dept Nucl Med, Milan, Italy

[4] GSF, Natl Res Ctr, Inst Human Genet, Neutherberg, Germany

[5] Tech Univ Munich, Inst Human Genet, D-8000 Munich, Germany

[6] AOBS S Michele Gen Hosp, Dept Neurosci, Cagliari, Italy

来源：

MOVEMENT DISORDERS | 2006年 / 21卷 / 03期

关键词：

PKAN; genetic; DaTSCAN/SPECT; MRI;

D O I：

10.1002/mds.20774

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report on it patient with late-onset, pantothenate kinase-associated neurodegeneration (PKAN) who revealed two new heterozygous Mutations at gene testing and showed asymmetric moderately reduced striatal dopamine transporter binding with single photon emission Computed tomography, possibly due to prolonged neuroleptic treatment. These findings expand the genetic and imaging spectrum of this rare disorder. (c) 2005 Movement Disorder Society.

引用

页码：417 / 418

页数：2

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