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Neuronal intranuclear inclusion bodies

MedGen UID:
1052898
•Concept ID:
CN376668
•
Finding
HPO: HP:6000155

Definition

The presence of intracellular inclusion bodies (aggregates of stainable substances, usually proteins) in neurons. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNeuronal intranuclear inclusion bodies

Professional guidelines

PubMed

NOTCH2NLC-related disorders: the widening spectrum and genotype-phenotype correlation.
Fan Y, Xu Y, Shi C
J Med Genet 2022 Jan;59(1):1-9. Epub 2021 Oct 21 doi: 10.1136/jmedgenet-2021-107883. PMID: 34675123
Differential diagnosis of Parkinson's disease and other neurodegenerative disorders.
Koh J, Ito H
Nihon Rinsho 2017 Jan;75(1):56-62. PMID: 30566295
Spinocerebellar ataxia type 7: clinical course, phenotype-genotype correlations, and neuropathology.
Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD
Cerebellum 2013 Apr;12(2):176-93. doi: 10.1007/s12311-012-0412-4. PMID: 22915085Free PMC Article

Recent clinical studies

Etiology

SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I
Hum Mol Genet 2001 Jul 1;10(14):1441-8. doi: 10.1093/hmg/10.14.1441. PMID: 11448935

Diagnosis

Spinocerebellar ataxia 2 (SCA2).
Lastres-Becker I, Rüb U, Auburger G
Cerebellum 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y. PMID: 18418684

Clinical prediction guides

Spinocerebellar ataxia 2 (SCA2).
Lastres-Becker I, Rüb U, Auburger G
Cerebellum 2008;7(2):115-24. doi: 10.1007/s12311-008-0019-y. PMID: 18418684
Oxidative stress in Huntington's disease.
Browne SE, Ferrante RJ, Beal MF
Brain Pathol 1999 Jan;9(1):147-63. doi: 10.1111/j.1750-3639.1999.tb00216.x. PMID: 9989457Free PMC Article
Pathogenesis of neurodegenerative diseases associated with expanded glutamine repeats: new answers, new questions.
Ross CA, Margolis RL, Becher MW, Wood JD, Engelender S, Cooper JK, Sharp AH
Prog Brain Res 1998;117:397-419. doi: 10.1016/s0079-6123(08)64029-7. PMID: 9932422

Supplemental Content

Table of contents

    Clinical resources

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