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Classic pantothenate kinase-associated neurodegeneration

MedGen UID:
1826057
•Concept ID:
C5679812
•
Disease or Syndrome
Synonyms: classic pantothenate kinase-associated neurodegeneration; NBIA1, classic form; neurodegeneration with brain iron accumulation type 1, classic form; Neurodegeneration with brain iron accumulation type 1, classic form; PKAN, classic form
 
Monarch Initiative: MONDO:0016304
Orphanet: ORPHA216866

Professional guidelines

PubMed

Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
Behrndt L, Gregory A, Wakeman K, Freed A, Wilson JL, Spaull R, Kurian MA, Mordekar S, Fernandes JA, Hayflick SJ, Hogarth P, Yang S
J Pediatr Orthop 2024 Jan 1;44(1):e61-e68. Epub 2023 Oct 23 doi: 10.1097/BPO.0000000000002555. PMID: 37867374
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

Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.
Shi X, Zheng F, Ye X, Li X, Zhao Q, Lin Z, Hu Y, Wang J
Medicine (Baltimore) 2018 Apr;97(15):e0316. doi: 10.1097/MD.0000000000010316. PMID: 29642163Free PMC Article
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
Cangül H, Ozdemir O, Yakut T, Okan M, Morgan NV, Baytan B, Kurian MA, Spiegel R, Maher ER
Turk J Pediatr 2009 Mar-Apr;51(2):161-5. PMID: 19480328
Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.
Chan KY, Lam CW, Lee LP, Tong SF, Yuen YP
Hong Kong Med J 2008 Feb;14(1):70-3. PMID: 18239249
Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.
Zolkipli Z, Dahmoush H, Saunders DE, Chong WK, Surtees R
Pediatr Radiol 2006 Aug;36(8):884-6. Epub 2006 Jun 7 doi: 10.1007/s00247-006-0205-3. PMID: 16758184

Diagnosis

Basal ganglia calcification and novel compound heterozygous mutations in the PANK2 gene in a Chinese boy with classic Pantothenate kinase-associated neurodegeneration: A case report.
Shi X, Zheng F, Ye X, Li X, Zhao Q, Lin Z, Hu Y, Wang J
Medicine (Baltimore) 2018 Apr;97(15):e0316. doi: 10.1097/MD.0000000000010316. PMID: 29642163Free PMC Article
The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.
Chiapparini L, Savoiardo M, D'Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N
Neuropediatrics 2011 Aug;42(4):159-62. Epub 2011 Aug 29 doi: 10.1055/s-0031-1285925. PMID: 21877312
Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
Cangül H, Ozdemir O, Yakut T, Okan M, Morgan NV, Baytan B, Kurian MA, Spiegel R, Maher ER
Turk J Pediatr 2009 Mar-Apr;51(2):161-5. PMID: 19480328
Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.
Chan KY, Lam CW, Lee LP, Tong SF, Yuen YP
Hong Kong Med J 2008 Feb;14(1):70-3. PMID: 18239249
Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.
Zolkipli Z, Dahmoush H, Saunders DE, Chong WK, Surtees R
Pediatr Radiol 2006 Aug;36(8):884-6. Epub 2006 Jun 7 doi: 10.1007/s00247-006-0205-3. PMID: 16758184

Therapy

Treatment of classic pantothenate kinase-associated neurodegeneration with deferiprone and intrathecal baclofen.
Pratini NR, Sweeters N, Vichinsky E, Neufeld JA
Am J Phys Med Rehabil 2013 Aug;92(8):728-33. doi: 10.1097/PHM.0b013e318282d209. PMID: 23370589Free PMC Article

Clinical prediction guides

The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration.
Chiapparini L, Savoiardo M, D'Arrigo S, Reale C, Zorzi G, Zibordi F, Cordelli DM, Franzoni E, Garavaglia B, Nardocci N
Neuropediatrics 2011 Aug;42(4):159-62. Epub 2011 Aug 29 doi: 10.1055/s-0031-1285925. PMID: 21877312

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