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Pallidal degeneration

MedGen UID:
140731
•Concept ID:
C0393577
•
Disease or Syndrome
SNOMED CT: Pallidal degeneration (230302004)
 
HPO: HP:0007132

Definition

Neurodegeneration involving the globus pallidus,a part of the basal ganglia that is involved in the regulation of voluntary movement. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPallidal degeneration

Conditions with this feature

Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
MedGen UID:
337612
•Concept ID:
C1846582
•
Disease or Syndrome
Pantothenate kinase-associated neurodegeneration (PKAN) is a type of neurodegeneration with brain iron accumulation (NBIA). The phenotypic spectrum of PKAN includes classic PKAN and atypical PKAN. Classic PKAN is characterized by early-childhood onset of progressive dystonia, dysarthria, rigidity, and choreoathetosis. Pigmentary retinal degeneration is common. Atypical PKAN is characterized by later onset (age >10 years), prominent speech defects, psychiatric disturbances, and more gradual progression of disease.
See: Condition Record
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration

Professional guidelines

PubMed

Continuous Dopaminergic Stimulation as a Treatment for Parkinson's Disease: Current Status and Future Opportunities.
Olanow CW, Calabresi P, Obeso JA
Mov Disord 2020 Oct;35(10):1731-1744. Epub 2020 Aug 20 doi: 10.1002/mds.28215. PMID: 32816321
Adenosine heteroreceptor complexes in the basal ganglia are implicated in Parkinson's disease and its treatment.
Borroto-Escuela DO, Fuxe K
J Neural Transm (Vienna) 2019 Apr;126(4):455-471. Epub 2019 Jan 14 doi: 10.1007/s00702-019-01969-2. PMID: 30637481Free PMC Article
Neuropsychiatric correlates and treatment of lenticulostriatal diseases: a review of the literature and overview of research opportunities in Huntington's, Wilson's, and Fahr's diseases. A report of the ANPA Committee on Research. American Neuropsychiatric Association.
Lauterbach EC, Cummings JL, Duffy J, Coffey CE, Kaufer D, Lovell M, Malloy P, Reeve A, Royall DR, Rummans TA, Salloway SP
J Neuropsychiatry Clin Neurosci 1998 Summer;10(3):249-66. doi: 10.1176/jnp.10.3.249. PMID: 9706533

Recent clinical studies

Etiology

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D
Eur J Paediatr Neurol 2020 Sep;28:151-158. Epub 2020 Jul 29 doi: 10.1016/j.ejpn.2020.07.007. PMID: 32800686
PANK2 gene analysis confirms genetic heterogeneity in neurodegeneration with brain iron accumulation (NBIA) but mutations are rare in other types of adult neurodegenerative disease.
Matarin MM, Singleton AB, Houlden H
Neurosci Lett 2006 Oct 23;407(2):162-5. Epub 2006 Sep 7 doi: 10.1016/j.neulet.2006.08.030. PMID: 16962235
HARP syndrome is allelic with pantothenate kinase-associated neurodegeneration.
Ching KH, Westaway SK, Gitschier J, Higgins JJ, Hayflick SJ
Neurology 2002 Jun 11;58(11):1673-4. doi: 10.1212/wnl.58.11.1673. PMID: 12058097

Diagnosis

Pallidopyramidal disease: a misnomer?
Horstink MW, Dekker MC, Montagna P, Bonifati V, van De Warrenburg BP
Mov Disord 2010 Jul 15;25(9):1109-15. doi: 10.1002/mds.23118. PMID: 20629153
Hallervorden-Spatz syndrome restricted to the pallidal nuclei.
Kessler C, Schwechheimer K, Reuther R, Born JA
J Neurol 1984;231(3):112-6. doi: 10.1007/BF00313676. PMID: 6481416

Prognosis

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D
Eur J Paediatr Neurol 2020 Sep;28:151-158. Epub 2020 Jul 29 doi: 10.1016/j.ejpn.2020.07.007. PMID: 32800686

Clinical prediction guides

Globus pallidus degeneration and clinicopathological features of Huntington disease.
Singh-Bains MK, Tippett LJ, Hogg VM, Synek BJ, Roxburgh RH, Waldvogel HJ, Faull RL
Ann Neurol 2016 Aug;80(2):185-201. Epub 2016 Jun 24 doi: 10.1002/ana.24694. PMID: 27255697
A case of adult onset pure pallidal degeneration. I. Clinical manifestations and neuropathological observations.
Aizawa H, Kwak S, Shimizu T, Goto J, Nakano I, Mannen T, Shibasaki H
J Neurol Sci 1991 Mar;102(1):76-82. doi: 10.1016/0022-510x(91)90096-p. PMID: 1856734

Recent systematic reviews

Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency.
Masnada S, Parazzini C, Bini P, Barbarini M, Alberti L, Valente M, Chiapparini L, De Silvestri A, Doneda C, Iascone M, Saielli LA, Cereda C, Veggiotti P, Corbetta C, Tonduti D
Eur J Paediatr Neurol 2020 Sep;28:151-158. Epub 2020 Jul 29 doi: 10.1016/j.ejpn.2020.07.007. PMID: 32800686

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