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Thinning of the substantia nigra pars compacta

MedGen UID:
1815068
Concept ID:
C5706162
Finding
HPO: HP:0034316

Definition

Reduced volume of pars compacta of the substantia nigra. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVThinning of the substantia nigra pars compacta

Conditions with this feature

Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism
MedGen UID:
1805453
Concept ID:
C5677001
Disease or Syndrome
Intellectual developmental disorder with language impairment and early-onset dopa-responsive dystonia-parkinsonism (IDLDP) is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Some patients may have normal early development in infancy before symptom onset. There is phenotypic heterogeneity and the severity is highly variable; less severely affected individuals have only mild deficits and are able to attend special schools. About half of patients develop various types of seizures that may be refractory or responsive to treatment. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism (Ramos et al., 2019, Wirth et al., 2020; Singh et al., 2020).

Recent clinical studies

Etiology

Shin NY, Kim BH, Yun E, Yoon U, Lee JM, Sung YH, Kim EY
Neuroimage Clin 2020;28:102382. Epub 2020 Aug 13 doi: 10.1016/j.nicl.2020.102382. PMID: 32828029Free PMC Article
Tinaz S, Courtney MG, Stern CE
Mov Disord 2011 Feb 15;26(3):436-41. Epub 2010 Dec 13 doi: 10.1002/mds.23453. PMID: 21462259Free PMC Article

Diagnosis

Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Hutchinson M, Raff U, Lebedev S
Neuroimage 2003 Nov;20(3):1899-902. doi: 10.1016/j.neuroimage.2003.07.012. PMID: 14642500

Therapy

Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Trosch RM, Ransom BR
Neurology 1990 Feb;40(2):376-7. doi: 10.1212/wnl.40.2.376. PMID: 2300264

Prognosis

Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article

Clinical prediction guides

Alves JN, Westner BU, Højlund A, Weil RS, Dalal SS
J Neurol Neurosurg Psychiatry 2023 Jun;94(6):448-456. Epub 2023 Feb 17 doi: 10.1136/jnnp-2022-329342. PMID: 36806480Free PMC Article
Tinaz S, Courtney MG, Stern CE
Mov Disord 2011 Feb 15;26(3):436-41. Epub 2010 Dec 13 doi: 10.1002/mds.23453. PMID: 21462259Free PMC Article

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