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

共 50 条

[31] Anesthetic management for deep brain stimulation in a patient with pantothenate kinase-associated neurodegeneration
Koc, D.
Imer, P.
Bayri, Y.
Seker, A.
PEDIATRIC ANESTHESIA AND CRITICAL CARE JOURNAL, 2014, 2 (02): : 122 - 125
[32] First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration
Trachoo, Objoon
Satirapod, Chonthicha
Panthan, Bhakbhoom
Sukprasert, Matchuporn
Charoenyingwattana, Angkana
Chantratita, Wasun
Choktanasiri, Wicharn
Hongeng, Suradej
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, 2017, 34 (01) : 109 - 116
[33] Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration
Prokisch, Holger
Meitinger, Thomas
Lee, Seung Yeob
Kim, Do Hyoun
Lee, Myung Sik
MOVEMENT DISORDERS, 2008, 23 (02) : 283 - 284
[34] Deep brain stimulation as a mode of treatment of early onset pantothenate kinase-associated neurodegeneration
Mikati, Mohamad A.
Yehya, Amin
Darwish, Houssein
Karam, Pascale
Comair, Youssef
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY, 2009, 13 (01) : 61 - 64
[35] Novel gene mutations and clinical features in patients with pantothenate kinase-associated neurodegeneration
Ma, L. -Y.
Wang, L.
Yang, Y. -M.
Lu, Y.
Cheng, F. -B.
Wan, X. -H.
CLINICAL GENETICS, 2015, 87 (01) : 93 - 95
[36] Pantothenate Kinase-Associated Neurodegeneration (PKAN) With Concomitant Blepharospasm: Unveiling a Clinical Enigma
Reddy, Venkat
Saboo, Keyur
Reddy, Kavyanjali
Kumar, Sunil
Acharya, Sourya
CUREUS JOURNAL OF MEDICAL SCIENCE, 2023, 15 (10)
[37] A Case of Pantothenate Kinase-Associated Neurodegeneration ( PKAN) in a Patient with One Known Pathologic Variant and One Variant of Unknown Significance
Chonillo, Carlos Cevallos
Rubin, Bryn
Rhinehart, Rachel
Houghton, David
NEUROLOGY, 2023, 100 (17)
[38] Novel PANK2 mutation identified in a patient with pantothenate kinase-associated neurodegeneration
Svetel, Marina
Novakovic, Ivana
Tomic, Svetlana
Kresojevic, Nikola
Kostic, Vladimir
SRPSKI ARHIV ZA CELOKUPNO LEKARSTVO, 2020, 148 (3-4) : 203 - 206
[39] Mandibular fracture in a patient with pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome)
Aliano Pina, M.
Pedroviejo Saez, V.
REVISTA ESPANOLA DE ANESTESIOLOGIA Y REANIMACION, 2012, 59 (01): : 55 - 56
[40] A novel PANK2 gene mutation in a patient with pantothenate kinase-associated neurodegeneration
Hatcher-Martin, J. M.
Rosen, A. R.
Factor, S. A.
MOVEMENT DISORDERS, 2015, 30 : S477 - S478

← 1 2 3 4 5 →