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Basal ganglia gliosis

MedGen UID:
416417
Concept ID:
C2750915
Finding
Synonym: Gliosis in the basal ganglia
 
HPO: HP:0006999

Definition

Focal proliferation of glial cells in the basal ganglia. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBasal ganglia gliosis

Conditions with this feature

Pontocerebellar hypoplasia type 1A
MedGen UID:
335969
Concept ID:
C1843504
Disease or Syndrome
Pontocerebellar hypoplasia (PCH) refers to a group of severe neurodegenerative disorders affecting growth and function of the brainstem and cerebellum, resulting in little or no development. Different types were classified based on the clinical picture and the spectrum of pathologic changes. PCH type 1 is characterized by central and peripheral motor dysfunction associated with anterior horn cell degeneration resembling infantile spinal muscular atrophy (SMA; see SMA1, 253300); death usually occurs early. Genetic Heterogeneity of Pontocerebellar Hypoplasia Also see PCH1B (614678), caused by mutation in the EXOSC3 gene (606489); PCH1C (616081), caused by mutation in the EXOSC8 gene (606019); PCH1D (618065), caused by mutation in the EXOSC9 gene (606180); PCH1E (619303), caused by mutation in the SLC25A46 gene (610826); PCH1F (619304), caused by mutation in the EXOSC1 gene (606493); PCH2A (277470), caused by mutation in the TSEN54 gene (608755); PCH2B (612389), caused by mutation in the TSEN2 gene (608753); PCH2C (612390), caused by mutation in the TSEN34 gene (608754); PCH2D (613811), caused by mutation in the SEPSECS gene (613009); PCH3 (608027), caused by mutation in the PCLO gene (604918); PCH4 (225753), caused by mutation in the TSEN54 gene; PCH5 (610204), caused by mutation in the TSEN54 gene; PCH6 (611523), caused by mutation in the RARS2 gene (611524); PCH7 (614969), caused by mutation in the TOE1 gene (613931); PCH8 (614961), caused by mutation in the CHMP1A gene (164010); PCH9 (615809), caused by mutation in the AMPD2 gene (102771); PCH10 (615803), caused by mutation in the CLP1 gene (608757); PCH11 (617695), caused by mutation in the TBC1D23 gene (617687); PCH12 (618266), caused by mutation in the COASY gene (609855); PCH13 (618606), caused by mutation in the VPS51 gene (615738); PCH14 (619301), caused by mutation in the PPIL1 gene (601301); PCH15 (619302), caused by mutation in the CDC40 gene (605585); PCH16 (619527), caused by mutation in the MINPP1 gene (605391); and PCH17 (619909), caused by mutation in the PRDM13 gene (616741) on chromosome 6q16.
Huntington disease-like 1
MedGen UID:
355137
Concept ID:
C1864112
Disease or Syndrome
Genetic prion disease generally manifests with cognitive difficulties, ataxia, and myoclonus (abrupt jerking movements of muscle groups and/or entire limbs). The order of appearance and/or predominance of these features and other associated neurologic and psychiatric findings vary. The three major phenotypes of genetic prion disease are genetic Creutzfeldt-Jakob disease (gCJD), fatal familial insomnia (FFI), and Gerstmann-Sträussler-Scheinker (GSS) syndrome. Although these phenotypes display overlapping clinical and pathologic features, recognition of these phenotypes can be useful when providing affected individuals and their families with information about the expected clinical course. The age at onset typically ranges from 50 to 60 years. The disease course ranges from a few months in gCJD and FFI to a few (up to 4, and in rare cases up to 10) years in GSS syndrome.
Combined oxidative phosphorylation defect type 14
MedGen UID:
1663069
Concept ID:
C4755312
Disease or Syndrome
The spectrum of FARS2 deficiency ranges from the infantile-onset phenotype, characterized by epileptic encephalopathy with lactic acidosis and poor prognosis (70% of affected individuals), to the later-onset phenotype, characterized by spastic paraplegia, less severe neurologic manifestations, and longer survival (30% of affected individuals). To date FARS2 deficiency has been reported in 37 individuals from 25 families. Infantile-onset phenotype. Seizures are difficult to control and may progress quickly at an early age to intractable seizures with frequent status epilepticus; some children have hypsarrhythmia on EEG. All have developmental delay; most are nonverbal and unable to walk. Feeding difficulties are common. More than half of affected children die in early childhood. Later-onset phenotype. All affected individuals have spastic paraplegia manifested by weakness, spasticity, and exaggerated reflexes of the lower extremities associated with walking difficulties; some have developmental delay/intellectual disability; some have brief seizures that resolve over time.
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
MedGen UID:
1748867
Concept ID:
C5399977
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 2 (MC4DN2) is an autosomal recessive multisystem metabolic disorder characterized by the onset of symptoms at birth or in the first weeks or months of life. Affected individuals have severe hypotonia, often associated with feeding difficulties and respiratory insufficiency necessitating tube feeding and mechanical ventilation. The vast majority of patients develop hypertrophic cardiomyopathy in the first days or weeks of life, which usually leads to death in infancy or early childhood. Patients also show neurologic abnormalities, including developmental delay, nystagmus, fasciculations, dystonia, EEG changes, and brain imaging abnormalities compatible with a diagnosis of Leigh syndrome (see 256000). There may also be evidence of systemic involvement with hepatomegaly and myopathy, although neurogenic muscle atrophy is more common and may resemble spinal muscular atrophy type I (SMA1; 253300). Serum lactate is increased, and laboratory studies show decreased mitochondrial complex IV protein and activity levels in various tissues, including heart and skeletal muscle. Most patients die in infancy of cardiorespiratory failure (summary by Papadopoulou et al., 1999). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.

Professional guidelines

PubMed

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Recent clinical studies

Etiology

Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G
Neurology 2013 Jan 15;80(3):261-7. Epub 2012 Dec 26 doi: 10.1212/WNL.0b013e31827deb4c. PMID: 23269594
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Diagnosis

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Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
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Zhang F, Chen J, Zhao L, Dong C
Rev Neurosci 2014;25(5):653-62. doi: 10.1515/revneuro-2014-0023. PMID: 24867281
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Therapy

Chelala L, O'Connor EE, Barker PB, Zeffiro TA
Neuroimage Clin 2020;28:102436. Epub 2020 Sep 15 doi: 10.1016/j.nicl.2020.102436. PMID: 33383609Free PMC Article
Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G
Neurology 2013 Jan 15;80(3):261-7. Epub 2012 Dec 26 doi: 10.1212/WNL.0b013e31827deb4c. PMID: 23269594
Hassan A, Whitwell JL, Boeve BF, Jack CR Jr, Parisi JE, Dickson DW, Josephs KA
Parkinsonism Relat Disord 2010 Mar;16(3):208-14. Epub 2009 Dec 16 doi: 10.1016/j.parkreldis.2009.11.013. PMID: 20018548Free PMC Article
Berman S, O'Neill J, Fears S, Bartzokis G, London ED
Ann N Y Acad Sci 2008 Oct;1141:195-220. doi: 10.1196/annals.1441.031. PMID: 18991959Free PMC Article
Yoshiyama Y, Higuchi M, Zhang B, Huang SM, Iwata N, Saido TC, Maeda J, Suhara T, Trojanowski JQ, Lee VM
Neuron 2007 Feb 1;53(3):337-51. doi: 10.1016/j.neuron.2007.01.010. PMID: 17270732

Prognosis

Arulnathan E, Manchanda A, Dixit R, Kumar A
J Child Neurol 2023 Aug;38(8-9):550-556. Epub 2023 Jul 27 doi: 10.1177/08830738231188561. PMID: 37499176
Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G
Neurology 2013 Jan 15;80(3):261-7. Epub 2012 Dec 26 doi: 10.1212/WNL.0b013e31827deb4c. PMID: 23269594
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Clinical prediction guides

Tabarki B, Al-Shafi S, Al-Shahwan S, Azmat Z, Al-Hashem A, Al-Adwani N, Biary N, Al-Zawahmah M, Khan S, Zuccoli G
Neurology 2013 Jan 15;80(3):261-7. Epub 2012 Dec 26 doi: 10.1212/WNL.0b013e31827deb4c. PMID: 23269594
Hassan A, Whitwell JL, Boeve BF, Jack CR Jr, Parisi JE, Dickson DW, Josephs KA
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Recent systematic reviews

Chakravarty K, Ray S, Kharbanda PS, Lal V, Baishya J
Acta Neurol Scand 2021 Sep;144(3):236-250. Epub 2021 May 13 doi: 10.1111/ane.13455. PMID: 33987835
Gómez Ochoa SA, Espín Chico BB
Funct Neurol 2018 Apr/Jun;33(2):67-72. PMID: 29984683
Wong JC, Armstrong MJ, Lang AE, Hazrati LN
Mov Disord 2013 Mar;28(3):274-81. Epub 2012 Oct 31 doi: 10.1002/mds.25232. PMID: 23114877

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