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Did you mean: hallervorden spatz syndrome (1202 items)

Select item 21695221.

Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

Robert A. Egan, Richard G. Weleber, Penelope Hogarth, Allison Gregory, Jason Coryell, Shawn K. Westaway, Jane Gitschier, Soma Das, Susan J. Hayflick

Am J Ophthalmol. Author manuscript; available in PMC 2007 Dec 31.

Published in final edited form as: Am J Ophthalmol. 2005 Aug; 140(2): 267–274. doi: 10.1016/j.ajo.2005.03.024

PMCID:: PMC2169522

Article PDF–761K

Select item 21057442.

Novel Compound Heterozygous Mutations in the PANK2 Gene in a Chinese Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration

Yu-hu Zhang, Bei-sha Tang, Ai-ling Zhao, Kun Xia, Zhi-gao Long, Ji-feng Guo, Shawn K. Westaway, Susan J. Hayflick

Mov Disord. Author manuscript; available in PMC 2007 Dec 4.

Published in final edited form as: Mov Disord. 2005 Jul; 20(7): 819–821. doi: 10.1002/mds.20408

PMCID:: PMC2105744

Article PDF–190K

Select item 21057453.

A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect

P. Rump, H. H. Lemmink, C. C. Verschuuren-Bemelmans, P. M. Grootscholten, Y. J. Vos, A. J. van Essen, J. M. Fock, S. J. Hayflick, S. K. Westaway

Neurogenetics. Author manuscript; available in PMC 2007 Dec 4.

Published in final edited form as: Neurogenetics. 2005 Dec; 6(4): 201–207. Published online 2005 Oct 21. doi: 10.1007/s10048-005-0018-9

PMCID:: PMC2105745

Article PDF–902K

Select item 31054924.

Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration

Michael C. Kruer, Mark Hiken, Allison Gregory, Alessandro Malandrini, David Clark, Penny Hogarth, Marjorie Grafe, Susan J. Hayflick, Randall L. Woltjer

Brain. 2011 Apr; 134(4): 947–958. Published online 2011 Mar 31. doi: 10.1093/brain/awr042

PMCID:: PMC3105492

Article PDF–844K

Select item 21173275.

Neurodegeneration with brain iron accumulation

Allison Gregory, Susan J. Hayflick

Folia Neuropathol. Author manuscript; available in PMC 2007 Dec 5.

Published in final edited form as: Folia Neuropathol. 2005; 43(4): 286–296.

PMCID:: PMC2117327

Article PDF–228K

Select item 88611536.

Redesigning therapies for pantothenate kinase–associated neurodegeneration

Muhammad I. Munshi, Sarah J. Yao, Choukri Ben Mamoun

J Biol Chem. 2022 Mar; 298(3): 101577. Published online 2022 Jan 15. doi: 10.1016/j.jbc.2022.101577

PMCID:: PMC8861153

Article PDF–1.6M

Select item 48923217.

Hallervorden–Spatz Syndrome with Seizures

Sunil Gothwal, Swati Nayan

Basic Clin Neurosci. 2016 Apr; 7(2): 165–166. doi: 10.15412/J.BCN.03070210

PMCID:: PMC4892321

Article PDF–606K

Select item 74911708.

Pilot trial on the efficacy and safety of pantethine in children with pantothenate kinase-associated neurodegeneration: a single-arm, open-label study

Xuting Chang, Jie Zhang, Yuwu Jiang, Bufan Yao, Jingmin Wang, Ye Wu

Orphanet J Rare Dis. 2020; 15: 248. Published online 2020 Sep 14. doi: 10.1186/s13023-020-01530-5

PMCID:: PMC7491170

Article PDF–757K

Select item 63583709.

Novel PANK2 mutation in a Chinese boy with PANK2-associated neurodegeneration: A case report and review of Chinese cases

Yingying Zhang, Dong Zhou, Tianhua Yang

Medicine (Baltimore) 2019 Jan; 98(4): e14122. Published online 2019 Jan 25. doi: 10.1097/MD.0000000000014122

PMCID:: PMC6358370

Article PDF–688K

Select item 1061555210.

The first Vietnamese patient who presented late onset of pantothenate kinase-associated neurodegeneration diagnosed by whole exome sequencing: A case report

Van Khanh Tran, Chi Dung Vu, Hai Anh Tran, Nguyen Thi Kim Lien, Nguyen Van Tung, Nguyen Ngoc Lan, Huy Thinh Tran, Nguyen Huy Hoang

Medicine (Baltimore) 2023 Oct 27; 102(43): e34853. Published online 2023 Oct 27. doi: 10.1097/MD.0000000000034853

PMCID:: PMC10615552

Article PDF–555K

Select item 209945711.

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration

Y. M. Kuo, S. J. Hayflick, J. Gitschier

J Inherit Metab Dis. Author manuscript; available in PMC 2007 Nov 29.

Published in final edited form as: J Inherit Metab Dis. 2007 Jun; 30(3): 310–317. Published online 2007 Apr 12. doi: 10.1007/s10545-007-0560-8

PMCID:: PMC2099457

Article PDF–528K

Select item 936459012.

Therapeutic approach with commercial supplements for pantothenate kinase-associated neurodegeneration with residual PANK2 expression levels

Mónica Álvarez-Córdoba, Diana Reche-López, Paula Cilleros-Holgado, Marta Talaverón-Rey, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Alejandra Suárez-Carrillo, Manuel Munuera-Cabeza, Rocío Piñero-Pérez, José A. Sánchez-Alcázar

Orphanet J Rare Dis. 2022; 17: 311. Published online 2022 Aug 9. doi: 10.1186/s13023-022-02465-9

PMCID:: PMC9364590

Article PDF–3.6M

Select item 642582413.

Precision medicine in pantothenate kinase-associated neurodegeneration

Mónica Álvarez-Córdoba, Marina Villanueva-Paz, Irene Villalón-García, Suleva Povea-Cabello, Juan M. Suárez-Rivero, Marta Talaverón-Rey, Javier Abril-Jaramillo, Ana Belén Vintimilla-Tosi, José A. Sánchez-Alcázar

Neural Regen Res. 2019 Jul; 14(7): 1177–1185. doi: 10.4103/1673-5374.251203

PMCID:: PMC6425824

Article PDF–555K

Select item 1005463614.

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

Chiara Cavestro, Daria Diodato, Valeria Tiranti, Ivano Di Meo

Int J Mol Sci. 2023 Mar; 24(6): 5951. Published online 2023 Mar 21. doi: 10.3390/ijms24065951

PMCID:: PMC10054636

Article PDF–1.7M

Select item 729899315.

Natural history and genotype‐phenotype correlation of pantothenate kinase‐associated neurodegeneration

Xuting Chang, Jie Zhang, Yuwu Jiang, Jingmin Wang, Ye Wu

CNS Neurosci Ther. 2020 Jul; 26(7): 754–761. Published online 2020 Feb 11. doi: 10.1111/cns.13294

PMCID:: PMC7298993

Article PDF–1.0M

Select item 853657216.

Renaming of Hallervorden–Spatz disease: the second man behind the name of the disease

Luca Voges, Andreas Kupsch

J Neural Transm (Vienna) 2021; 128(11): 1635–1640. Published online 2021 Oct 16. doi: 10.1007/s00702-021-02408-x

PMCID:: PMC8536572

Article PDF–793K

Select item 1047267317.

Patient and caregiver experiences with pantothenate kinase-associated neurodegeneration (PKAN): results from a patient community survey

Thomas Klopstock, Saadet Mercimek-Andrews, Agnieszka Jurecka, Patricia Wood, Maciej Cwyl, Angelika Klucken, Antonio López, Roberta Scalise, Andrea Valle, Fatemeh Mollet, Belen Perez-Duenas, Marta Skowronska, Magdalena Chroscinska-Krawczyk, Maria Luisa Escolar, Anna Wade, David Rintell

Orphanet J Rare Dis. 2023; 18: 257. Published online 2023 Aug 31. doi: 10.1186/s13023-023-02869-1

PMCID:: PMC10472673

Article PDF–902K

Select item 533098518.

First successful trial of preimplantation genetic diagnosis for pantothenate kinase-associated neurodegeneration

Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng

J Assist Reprod Genet. 2017 Jan; 34(1): 109–116. Published online 2016 Nov 4. doi: 10.1007/s10815-016-0833-y

PMCID:: PMC5330985

Article PDF–719K

Select item 666171919.

The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration

Thomas Klopstock, Maria L Escolar, Randall D Marshall, Belen Perez-Dueñas, Sarah Tuller, Aleksandar Videnovic, Feriandas Greblikas

Clin Trials. 2019 Aug; 16(4): 410–418. Published online 2019 May 6. doi: 10.1177/1740774519845673

PMCID:: PMC6661719

Article PDF–267K

Select item 605964920.

Pantothenate Kinase-Associated Neurodegeneration (PKAN) and PLA2G6-Associated Neurodegeneration (PLAN): Review of Two Major Neurodegeneration with Brain Iron Accumulation (NBIA) Phenotypes

Manju A. Kurian, Susan J. Hayflick

Int Rev Neurobiol. Author manuscript; available in PMC 2018 Jul 25.

Published in final edited form as: Int Rev Neurobiol. 2013; 110: 49–71. doi: 10.1016/B978-0-12-410502-7.00003-X

PMCID:: PMC6059649

Article PDF–419K

Did you mean: hallervorden spatz syndrome (1202 items)

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PMC Images search for Hallervorden-Spatz Syndrome

Fig. 10Eye of tiger sign.

Coronal T2WI shows eye of tiger sign (arrows) in patient with Hallervorden-Spatz syndrome. T2WI = T2weighted images

Signs in Neuroradiology: A Pictorial Review

Korean J Radiol. 2017 Nov-Dec;18(6):992-1004.
Figure 1

The distribution of patients according to their clinical diagnoses (n = 1,246). The syndromic IRD cases are grouped in the pie chart, and detailed in the stacked bar on the right. Arts syndrome, Hallervorden-Spatz disease, Jalili syndrome, Marshall syndrome, Microcephaly and chorioretinopathy and PHARC syndrome (Polyneuropathy, Hearing loss, Ataxia, Retinitis pigmentosa, and Cataract) are designated as “other syndromes”.

Relative frequency of inherited retinal dystrophies in Brazil

Sci Rep. 2018;8:15939.
Figure 14

The eye-of-the-tiger sign. Axial T2W MRI image of the brain shows hypointensity of the globus palladi (arrows). There is relative hyperintensity of the central part, giving the globus palladi the appearance of the eyes of a tiger. This appearance is seen in Hallervorden-Spatz syndrome

Twenty classic signs in neuroradiology: A pictorial essay

Indian J Radiol Imaging. 2009 May;19(2):135-145.
FIGURE 1

T2-weighted axial magnetic resonance imaging (MRI) scan of the brain through the globus pallidus in a normal individual and in an individual with pantothenate kinase-associated neurodegeneration (PKAN). Note that the globus pallidus of the patient with PKAN is much darker than typical with a bright spot in the center bilaterally. This is a typical “eye of the tiger sign” of a patient with PKAN (used with permission from Hayflick SJ, Westaway SK, Levinson B et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40).

Neuro-Ophthalmologic and Electroretinographic Findings in Pantothenate Kinase-Associated Neurodegeneration (formerly Hallervorden-Spatz Syndrome)

Am J Ophthalmol. ;140(2):267-274.