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Atypical pantothenate kinase-associated neurodegeneration

MedGen UID:
1800044
•Concept ID:
C5568621
•
Disease or Syndrome
Synonyms: Atypical pantothenate kinase associated neurodegeneration; atypical pantothenate kinase-associated neurodegeneration; NBIA1, atypical form; Neurodegeneration with brain iron accumulation type 1, atypical form; neurodegeneration with brain iron accumulation type 1, atypical form; PKAN, atypical form
SNOMED CT: Atypical pantothenate kinase associated neurodegeneration (1186856001)
 
Monarch Initiative: MONDO:0016305
Orphanet: ORPHA216873

Professional guidelines

PubMed

The diverse phenotype and genotype of pantothenate kinase-associated neurodegeneration.
Pellecchia MT, Valente EM, Cif L, Salvi S, Albanese A, Scarano V, Bonuccelli U, Bentivoglio AR, D'Amico A, Marelli C, Di Giorgio A, Coubes P, Barone P, Dallapiccola B
Neurology 2005 May 24;64(10):1810-2. doi: 10.1212/01.WNL.0000161843.52641.EC. PMID: 15911822

Recent clinical studies

Etiology

Atypical pantothenate kinase-associated neurodegeneration with PANK2 mutations : clinical description and a review of the literature.
Pan S, Zhu C
Neurocase 2020 Jun;26(3):175-182. Epub 2020 Apr 20 doi: 10.1080/13554794.2020.1752739. PMID: 32310012
Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
Cheng Y, Liu YT, Yang ZH, Yang J, Shi CH, Xu YM
Int J Neurosci 2018 Dec;128(12):1109-1113. Epub 2018 Aug 15 doi: 10.1080/00207454.2018.1483364. PMID: 29962256
Atypical pantothenate kinase-associated neurodegeneration with novel genetic mutation.
Israni AV, Mandal A
Neurol India 2017 Jul-Aug;65(4):914-915. doi: 10.4103/neuroindia.NI_1260_16. PMID: 28681788
Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
Tanteles GA, Spanou-Aristidou E, Antoniou C, Christophidou-Anastasiadou V, Kleopa KA
J Neurol Sci 2014 May 15;340(1-2):233-6. Epub 2014 Mar 11 doi: 10.1016/j.jns.2014.03.001. PMID: 24655737
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
Shan J, Wen B, Zhu J, Lin P, Zheng J, Yan C
Neurol Sci 2013 Apr;34(4):561-3. Epub 2012 Aug 29 doi: 10.1007/s10072-012-1177-8. PMID: 22930366

Diagnosis

Novel compound heterozygous PANK2 gene mutations in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration.
Cheng Y, Liu YT, Yang ZH, Yang J, Shi CH, Xu YM
Int J Neurosci 2018 Dec;128(12):1109-1113. Epub 2018 Aug 15 doi: 10.1080/00207454.2018.1483364. PMID: 29962256
Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature.
Mahoui S, Benhaddadi A, Ameur El Khedoud W, Abada Bendib M, Chaouch M
Rev Neurol (Paris) 2017 Dec;173(10):658-662. Epub 2017 Jun 16 doi: 10.1016/j.neurol.2017.05.013. PMID: 28629633
CLINICAL EFFECT OF A MUTATION (p.Glu322Asp, c.966 G>T) IN PANK2 GENE IN A FAMILY WITH ATYPICAL PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION.
Ayas ZO, Karkucak M, Ocal RO, Yakut T
Genet Couns 2016;27(4):489-494. PMID: 30226968
Optic Atrophy in a Patient With Atypical Pantothenate Kinase-Associated Neurodegeneration.
Han J, Kim do W, Lee CH, Han SH
J Neuroophthalmol 2016 Jun;36(2):182-6. doi: 10.1097/WNO.0000000000000335. PMID: 26828840
Novel homozygous PANK2 mutation causing atypical pantothenate kinase-associated neurodegeneration (PKAN) in a Cypriot family.
Tanteles GA, Spanou-Aristidou E, Antoniou C, Christophidou-Anastasiadou V, Kleopa KA
J Neurol Sci 2014 May 15;340(1-2):233-6. Epub 2014 Mar 11 doi: 10.1016/j.jns.2014.03.001. PMID: 24655737

Prognosis

Atypical pantothenate kinase-associated neurodegeneration: Clinical description of two brothers and a review of the literature.
Mahoui S, Benhaddadi A, Ameur El Khedoud W, Abada Bendib M, Chaouch M
Rev Neurol (Paris) 2017 Dec;173(10):658-662. Epub 2017 Jun 16 doi: 10.1016/j.neurol.2017.05.013. PMID: 28629633
Novel PANK2 gene mutations in two Chinese siblings with atypical pantothenate kinase-associated neurodegeneration.
Shan J, Wen B, Zhu J, Lin P, Zheng J, Yan C
Neurol Sci 2013 Apr;34(4):561-3. Epub 2012 Aug 29 doi: 10.1007/s10072-012-1177-8. PMID: 22930366

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