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Cerebellar Purkinje layer atrophy

MedGen UID:
868652
•Concept ID:
C4023053
•
Anatomical Abnormality
HPO: HP:0012082

Definition

Atrophy of the cerebellum affecting primarily the Purkinje cell layer. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCerebellar Purkinje layer atrophy

Recent clinical studies

Etiology

Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases.
Kuo SH, Lin CY, Wang J, Sims PA, Pan MK, Liou JY, Lee D, Tate WJ, Kelly GC, Louis ED, Faust PL
Acta Neuropathol 2017 Jan;133(1):121-138. Epub 2016 Oct 4 doi: 10.1007/s00401-016-1626-1. PMID: 27704282Free PMC Article
Anti-DARPP32 antibody-immunopositive inclusions in the brain of patients with multiple system atrophy.
Honjo Y, Shirakashi Y, Kawamoto Y, Akiguchi I
Clin Neuropathol 2008 Sep-Oct;27(5):309-16. doi: 10.5414/npp27309. PMID: 18808062
Dysregulation of Reelin and Bcl-2 proteins in autistic cerebellum.
Fatemi SH, Stary JM, Halt AR, Realmuto GR
J Autism Dev Disord 2001 Dec;31(6):529-35. doi: 10.1023/a:1013234708757. PMID: 11814262
Cerebellar atrophy in Alzheimer's disease-clinicopathological correlations.
Wegiel J, Wisniewski HM, Dziewiatkowski J, Badmajew E, Tarnawski M, Reisberg B, Mlodzik B, De Leon MJ, Miller DC
Brain Res 1999 Feb 6;818(1):41-50. doi: 10.1016/s0006-8993(98)01279-7. PMID: 9914436
Atrophy of the cerebellar vermis in ageing. A morphometric and histologic study.
Torvik A, Torp S, Lindboe CF
J Neurol Sci 1986 Dec;76(2-3):283-94. doi: 10.1016/0022-510x(86)90176-0. PMID: 3794753

Diagnosis

Neuropathology of a case of fragile X-associated tremor ataxia syndrome without tremor.
Robinson AC, Bajaj N, Hadjivassiliou M, Minshull J, Mahmood A, Roncaroli F
Neuropathology 2020 Dec;40(6):611-619. Epub 2020 Aug 23 doi: 10.1111/neup.12674. PMID: 32830366
Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases.
Kuo SH, Lin CY, Wang J, Sims PA, Pan MK, Liou JY, Lee D, Tate WJ, Kelly GC, Louis ED, Faust PL
Acta Neuropathol 2017 Jan;133(1):121-138. Epub 2016 Oct 4 doi: 10.1007/s00401-016-1626-1. PMID: 27704282Free PMC Article
Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.
Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI
Neuropediatrics 1994 Aug;25(4):183-90. doi: 10.1055/s-2008-1073020. PMID: 7824090
The cerebellar serotoninergic system and its possible involvement in cerebellar ataxia.
Trouillas P
Can J Neurol Sci 1993 May;20 Suppl 3:S78-82. doi: 10.1017/s0317167100048575. PMID: 8334597
Atrophy of the cerebellar vermis in ageing. A morphometric and histologic study.
Torvik A, Torp S, Lindboe CF
J Neurol Sci 1986 Dec;76(2-3):283-94. doi: 10.1016/0022-510x(86)90176-0. PMID: 3794753

Therapy

Quantitative pathological changes in the cerebellum of multiple system atrophy.
Armstrong RA
Folia Neuropathol 2015;53(3):193-202. doi: 10.5114/fn.2015.54420. PMID: 26443310
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T
Genome Res 2011 Dec;21(12):1995-2003. Epub 2011 Sep 1 doi: 10.1101/gr.126110.111. PMID: 21885617Free PMC Article
The P/Q-type voltage-dependent calcium channel as pharmacological target in spinocerebellar ataxia type 6: gabapentin and pregabalin may be of therapeutic benefit.
Gazulla J, Tintoré MA
Med Hypotheses 2007;68(1):131-6. Epub 2006 Aug 8 doi: 10.1016/j.mehy.2006.06.014. PMID: 16899342
Pathologic assessment of cerebellar atrophy following acute lithium intoxication.
Mangano WE, Montine TJ, Hulette CM
Clin Neuropathol 1997 Jan-Feb;16(1):30-3. PMID: 9020392
Chronic methylmercurialism in the cat.
Gruber TA, Costigan P, Wilkinson GT, Seawright AA
Aust Vet J 1978 Apr;54(4):155-60. doi: 10.1111/j.1751-0813.1978.tb02438.x. PMID: 687273

Prognosis

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
Gulsuner S, Tekinay AB, Doerschner K, Boyaci H, Bilguvar K, Unal H, Ors A, Onat OE, Atalar E, Basak AN, Topaloglu H, Kansu T, Tan M, Tan U, Gunel M, Ozcelik T
Genome Res 2011 Dec;21(12):1995-2003. Epub 2011 Sep 1 doi: 10.1101/gr.126110.111. PMID: 21885617Free PMC Article
An immunohistochemical study of Purkinje cells in a case of hereditary cerebellar cortical atrophy.
Nakamura R, Kurita K, Kawanami T, Kato T
Acta Neuropathol 1999 Feb;97(2):196-200. doi: 10.1007/s004010050974. PMID: 9928832
Cerebellar atrophy in Alzheimer's disease-clinicopathological correlations.
Wegiel J, Wisniewski HM, Dziewiatkowski J, Badmajew E, Tarnawski M, Reisberg B, Mlodzik B, De Leon MJ, Miller DC
Brain Res 1999 Feb 6;818(1):41-50. doi: 10.1016/s0006-8993(98)01279-7. PMID: 9914436
Congenital olivopontocerebellar atrophy: report of two siblings with paleo- and neocerebellar atrophy.
Park SH, Becker-Catania S, Gatti RA, Crandall BF, Emelin JK, Vinters HV
Acta Neuropathol 1998 Oct;96(4):315-21. doi: 10.1007/s004010050900. PMID: 9796994
Primary degeneration of the granular layer of the cerebellum. A study of 14 patients and review of the literature.
Pascual-Castroviejo I, Gutierrez M, Morales C, Gonzalez-Mediero I, Martínez-Bermejo A, Pascual-Pascual SI
Neuropediatrics 1994 Aug;25(4):183-90. doi: 10.1055/s-2008-1073020. PMID: 7824090

Clinical prediction guides

Neuropathology of a case of fragile X-associated tremor ataxia syndrome without tremor.
Robinson AC, Bajaj N, Hadjivassiliou M, Minshull J, Mahmood A, Roncaroli F
Neuropathology 2020 Dec;40(6):611-619. Epub 2020 Aug 23 doi: 10.1111/neup.12674. PMID: 32830366
Climbing fiber-Purkinje cell synaptic pathology in tremor and cerebellar degenerative diseases.
Kuo SH, Lin CY, Wang J, Sims PA, Pan MK, Liou JY, Lee D, Tate WJ, Kelly GC, Louis ED, Faust PL
Acta Neuropathol 2017 Jan;133(1):121-138. Epub 2016 Oct 4 doi: 10.1007/s00401-016-1626-1. PMID: 27704282Free PMC Article
Cerebellar degeneration in hereditary dentatorubral-pallidoluysian atrophy and Machado-Joseph disease.
Kumada S, Hayashi M, Mizuguchi M, Nakano I, Morimatsu Y, Oda M
Acta Neuropathol 2000 Jan;99(1):48-54. doi: 10.1007/pl00007405. PMID: 10651027
Cerebellar atrophy in Alzheimer's disease-clinicopathological correlations.
Wegiel J, Wisniewski HM, Dziewiatkowski J, Badmajew E, Tarnawski M, Reisberg B, Mlodzik B, De Leon MJ, Miller DC
Brain Res 1999 Feb 6;818(1):41-50. doi: 10.1016/s0006-8993(98)01279-7. PMID: 9914436
The cerebellar serotoninergic system and its possible involvement in cerebellar ataxia.
Trouillas P
Can J Neurol Sci 1993 May;20 Suppl 3:S78-82. doi: 10.1017/s0317167100048575. PMID: 8334597

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