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Neuronal loss in basal ganglia

MedGen UID:
413431
Concept ID:
C2750913
Finding
HPO: HP:0200147

Definition

A reduction in the number of nerve cells in the basal ganglia. [from HPO]

Term Hierarchy

Conditions with this feature

Supranuclear palsy, progressive, 2
MedGen UID:
324446
Concept ID:
C1836148
Disease or Syndrome
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.
Supranuclear palsy, progressive, 1
MedGen UID:
1640811
Concept ID:
C4551863
Disease or Syndrome
The spectrum of clinical manifestations of MAPT-related frontotemporal dementia (MAPT-FTD) has expanded from its original description of frontotemporal dementia and parkinsonian manifestations to include changes in behavior, motor function, memory, and/or language. A recent retrospective study suggested that the majority of affected individuals have either behavioral changes consistent with a diagnosis of behavioral variant FTD (bvFTD) or, less commonly, a parkinsonian syndrome (i.e., progressive supranuclear palsy, corticobasal syndrome, or Parkinson disease). Fewer than 5% of people with MAPT-FTD have primary progressive aphasia or Alzheimer disease. Clinical presentation may differ between and within families with the same MAPT variant. MAPT-FTD is a progressive disorder that commonly ends with a relatively global dementia in which some affected individuals become mute. Progression of motor impairment in affected individuals results in some becoming chairbound and others bedbound. Mean disease duration is 9.3 (SD: 6.4) years but is individually variable and can be more than 30 years in some instances.
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

Tisch S, Limousin P
Exp Brain Res 2020 Aug;238(7-8):1645-1657. Epub 2020 Jul 7 doi: 10.1007/s00221-020-05833-8. PMID: 32638036Free PMC Article
Yao XP, Cheng X, Wang C, Zhao M, Guo XX, Su HZ, Lai LL, Zou XH, Chen XJ, Zhao Y, Dong EL, Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N, Xiong ZQ, Chen WJ
Neuron 2018 Jun 27;98(6):1116-1123.e5. Epub 2018 Jun 14 doi: 10.1016/j.neuron.2018.05.037. PMID: 29910000
Nishijima H, Ueno T, Funamizu Y, Ueno S, Tomiyama M
Mov Disord 2018 Jul;33(6):877-888. Epub 2017 Sep 7 doi: 10.1002/mds.27172. PMID: 28880414Free PMC Article

Recent clinical studies

Etiology

Klockgether T, Mariotti C, Paulson HL
Nat Rev Dis Primers 2019 Apr 11;5(1):24. doi: 10.1038/s41572-019-0074-3. PMID: 30975995
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Matikainen-Ankney BA, Kravitz AV
Ann N Y Acad Sci 2018 Sep;1428(1):221-239. Epub 2018 May 9 doi: 10.1111/nyas.13665. PMID: 29741270Free PMC Article
Galvan A, Wichmann T
Clin Neurophysiol 2008 Jul;119(7):1459-74. Epub 2008 May 7 doi: 10.1016/j.clinph.2008.03.017. PMID: 18467168Free PMC Article
Gilman S
Clin Neuropharmacol 2000 Nov-Dec;23(6):296-303. doi: 10.1097/00002826-200011000-00002. PMID: 11575863

Diagnosis

Rahman S
Handb Clin Neurol 2023;194:43-63. doi: 10.1016/B978-0-12-821751-1.00015-4. PMID: 36813320
Crunelli V, Lőrincz ML, McCafferty C, Lambert RC, Leresche N, Di Giovanni G, David F
Brain 2020 Aug 1;143(8):2341-2368. doi: 10.1093/brain/awaa072. PMID: 32437558Free PMC Article
Klockgether T, Mariotti C, Paulson HL
Nat Rev Dis Primers 2019 Apr 11;5(1):24. doi: 10.1038/s41572-019-0074-3. PMID: 30975995
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Kamble N, Pal PK
Neurol India 2018 Mar-Apr;66(Supplement):S36-S47. doi: 10.4103/0028-3886.226440. PMID: 29503326

Therapy

Wu Z, Parry M, Hou XY, Liu MH, Wang H, Cain R, Pei ZF, Chen YC, Guo ZY, Abhijeet S, Chen G
Nat Commun 2020 Feb 27;11(1):1105. doi: 10.1038/s41467-020-14855-3. PMID: 32107381Free PMC Article
Klockgether T, Mariotti C, Paulson HL
Nat Rev Dis Primers 2019 Apr 11;5(1):24. doi: 10.1038/s41572-019-0074-3. PMID: 30975995
Balint B, Mencacci NE, Valente EM, Pisani A, Rothwell J, Jankovic J, Vidailhet M, Bhatia KP
Nat Rev Dis Primers 2018 Sep 20;4(1):25. doi: 10.1038/s41572-018-0023-6. PMID: 30237473
Miller AH, Maletic V, Raison CL
Biol Psychiatry 2009 May 1;65(9):732-41. Epub 2009 Jan 15 doi: 10.1016/j.biopsych.2008.11.029. PMID: 19150053Free 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

Radcliffe EM, Baumgartner AJ, Kern DS, Al Borno M, Ojemann S, Kramer DR, Thompson JA
J Neurophysiol 2023 Jun 1;129(6):1492-1504. Epub 2023 May 17 doi: 10.1152/jn.00055.2023. PMID: 37198135
Chung SJ, Yoo HS, Lee YH, Lee HS, Lee PH, Sohn YH
Neurobiol Aging 2020 Aug;92:1-6. Epub 2020 Mar 6 doi: 10.1016/j.neurobiolaging.2020.02.028. PMID: 32320836
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I
Adv Exp Med Biol 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. PMID: 29214587
Rangel-Barajas C, Rebec GV
J Huntingtons Dis 2016 Dec 15;5(4):303-331. doi: 10.3233/JHD-160221. PMID: 27983564Free PMC Article
Herrero MT, Barcia C, Navarro JM
Childs Nerv Syst 2002 Aug;18(8):386-404. Epub 2002 Jul 26 doi: 10.1007/s00381-002-0604-1. PMID: 12192499

Clinical prediction guides

Homann CN, Homann B
J Integr Neurosci 2022 Sep 20;21(6):155. doi: 10.31083/j.jin2106155. PMID: 36424745
Singh A
Eur J Neurosci 2018 Oct;48(8):2869-2878. Epub 2018 Feb 8 doi: 10.1111/ejn.13853. PMID: 29381817
Matilla-Dueñas A, Corral-Juan M, Rodríguez-Palmero Seuma A, Vilas D, Ispierto L, Morais S, Sequeiros J, Alonso I, Volpini V, Serrano-Munuera C, Pintos-Morell G, Álvarez R, Sánchez I
Adv Exp Med Biol 2017;1031:443-496. doi: 10.1007/978-3-319-67144-4_25. PMID: 29214587
Herrero MT, Barcia C, Navarro JM
Childs Nerv Syst 2002 Aug;18(8):386-404. Epub 2002 Jul 26 doi: 10.1007/s00381-002-0604-1. PMID: 12192499
Stover NP, Watts RL
Semin Neurol 2001;21(1):49-58. doi: 10.1055/s-2001-13119. PMID: 11346025

Recent systematic reviews

Joshi D, Prasad S, Saini J, Ingalhalikar M
Acad Radiol 2023 Aug;30(8):1695-1708. Epub 2022 Nov 23 doi: 10.1016/j.acra.2022.11.001. PMID: 36435728
Homann CN, Homann B
J Integr Neurosci 2022 Sep 20;21(6):155. doi: 10.31083/j.jin2106155. PMID: 36424745

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