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Loss of Purkinje cells in the cerebellar vermis

MedGen UID:
336510
Concept ID:
C1849146
Finding
HPO: HP:0007001

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLoss of Purkinje cells in the cerebellar vermis

Conditions with this feature

Charlevoix-Saguenay spastic ataxia
MedGen UID:
338620
Concept ID:
C1849140
Disease or Syndrome
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is clinically characterized by a progressive cerebellar ataxia, peripheral neuropathy, and spasticity. Disease onset of classic ARSACS is often in early childhood, leading to delayed walking because of gait unsteadiness in very young toddlers, while an increasing number of individuals with disease onset in teenage or early-adult years are now being described. Typically the ataxia is followed by lower-limb spasticity and later by peripheral neuropathy – although pronounced peripheral neuropathy has been observed as a first sign of ARSACS. Oculomotor disturbances, dysarthria, and upper-limb ataxia develop with slower progression than the other findings. Brain imaging demonstrates atrophy of the superior vermis and the cerebellar hemisphere with additional findings on MRI, such as linear hypointensities in the pons and hyperintense rims around the thalami. Many affected individuals (though not all) have yellow streaks of hypermyelinated fibers radiating from the edges of the optic disc noted on ophthalmologic exam, and thickened retinal fibers can be demonstrated by optical coherence tomography. Mild intellectual disability, hearing loss, and urinary urgency and incontinence have been reported in some individuals.
Pontocerebellar hypoplasia type 4
MedGen UID:
384027
Concept ID:
C1856974
Congenital Abnormality
TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.
Spinocerebellar ataxia type 42
MedGen UID:
902592
Concept ID:
C4225205
Disease or Syndrome
Spinocerebellar ataxia-42 (SCA42) is an autosomal dominant neurologic disorder characterized predominantly by gait instability and additional cerebellar signs such as dysarthria, nystagmus, and saccadic pursuits. The age at onset and severity of the disorder is highly variable. The disorder is slowly progressive (Coutelier et al., 2015). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).

Recent clinical studies

Etiology

Tan RH, Kril JJ, McGinley C, Hassani M, Masuda-Suzukake M, Hasegawa M, Mito R, Kiernan MC, Halliday GM
Ann Neurol 2016 Feb;79(2):295-305. Epub 2016 Jan 14 doi: 10.1002/ana.24565. PMID: 26599997
Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
Ann N Y Acad Sci 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x. PMID: 21950986
Lee M, Martin-Ruiz C, Graham A, Court J, Jaros E, Perry R, Iversen P, Bauman M, Perry E
Brain 2002 Jul;125(Pt 7):1483-95. doi: 10.1093/brain/awf160. PMID: 12076999
Karhunen PJ, Erkinjuntti T, Laippala P
BMJ 1994 Jun 25;308(6945):1663-7. doi: 10.1136/bmj.308.6945.1663. PMID: 8025457Free PMC Article
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

Beaman MM, Guidugli L, Hammer M, Barrows C, Gregor A, Lee S, Deak KL, McDonald MT, Jensen C, Zaki MS, Masri AT, Hobbs CA, Gleeson JG, Cohen JL
Am J Med Genet A 2023 Nov;191(11):2757-2767. Epub 2023 Aug 19 doi: 10.1002/ajmg.a.63363. PMID: 37596828
Szmulewicz DJ, McLean CA, Rodriguez ML, Chancellor AM, Mossman S, Lamont D, Roberts L, Storey E, Halmagyi GM
Neurology 2014 Apr 22;82(16):1410-5. Epub 2014 Mar 28 doi: 10.1212/WNL.0000000000000352. PMID: 24682971Free PMC Article
Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
Ann N Y Acad Sci 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x. PMID: 21950986
Tremont-Lukats IW, Fuller GN, Ribalta T, Giglio P, Groves MD
Neuro Oncol 2002 Jul;4(3):192-5. doi: 10.1093/neuonc/4.3.192. PMID: 12084350Free PMC Article
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

Chen WJ, King KA, Lee RE, Sedtal CS, Smith AM
Life Sci 2006 Nov 2;79(23):2221-7. Epub 2006 Jul 26 doi: 10.1016/j.lfs.2006.07.019. PMID: 16959275
Karhunen PJ, Erkinjuntti T, Laippala P
BMJ 1994 Jun 25;308(6945):1663-7. doi: 10.1136/bmj.308.6945.1663. PMID: 8025457Free PMC Article
Tsuchiya K, Ozawa E, Saito F, Irie H, Mizutani T
Eur Neurol 1994;34(5):253-62. doi: 10.1159/000117052. PMID: 7995299
Butterworth RF
Can J Neurol Sci 1993 May;20 Suppl 3:S123-6. PMID: 8334588
Naramoto A, Koizumi N, Itoh N, Shigematsu H
Acta Pathol Jpn 1993 Jan-Feb;43(1-2):55-8. doi: 10.1111/j.1440-1827.1993.tb02914.x. PMID: 8257473

Prognosis

Szmulewicz DJ, Waterston JA, MacDougall HG, Mossman S, Chancellor AM, McLean CA, Merchant S, Patrikios P, Halmagyi GM, Storey E
Ann N Y Acad Sci 2011 Sep;1233:139-47. doi: 10.1111/j.1749-6632.2011.06158.x. PMID: 21950986
Uchihara T, Ohashi K, Kitagawa M, Kurata M, Nakamura A, Hirokawa K, Kasuga T, Kobayashi T
Acta Neuropathol 2010 Jan;119(1):135-45. Epub 2009 May 5 doi: 10.1007/s00401-009-0544-x. PMID: 19415310
Tremont-Lukats IW, Fuller GN, Ribalta T, Giglio P, Groves MD
Neuro Oncol 2002 Jul;4(3):192-5. doi: 10.1093/neuonc/4.3.192. PMID: 12084350Free PMC Article
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
Tiller-Borcich JK, Urich H
J Neurol Neurosurg Psychiatry 1986 May;49(5):581-4. doi: 10.1136/jnnp.49.5.581. PMID: 3519873Free PMC Article

Clinical prediction guides

Winklehner M, Bauer J, Endmayr V, Schwaiger C, Ricken G, Motomura M, Yoshimura S, Shintaku H, Ishikawa K, Tsuura Y, Iizuka T, Yokota T, Irioka T, Höftberger R
Neurol Neuroimmunol Neuroinflamm 2022 Jul;9(4) Epub 2022 Jul 7 doi: 10.1212/NXI.0000000000200006. PMID: 36070310Free PMC Article
Roux T, Barbier M, Papin M, Davoine CS, Sayah S, Coarelli G, Charles P, Marelli C, Parodi L, Tranchant C, Goizet C, Klebe S, Lohmann E, Van Maldergem L, van Broeckhoven C, Coutelier M, Tesson C, Stevanin G, Duyckaerts C, Brice A, Durr A; SPATAX network
Genet Med 2020 Nov;22(11):1851-1862. Epub 2020 Jul 27 doi: 10.1038/s41436-020-0899-x. PMID: 32713943
Haldipur P, Dang D, Aldinger KA, Janson OK, Guimiot F, Adle-Biasette H, Dobyns WB, Siebert JR, Russo R, Millen KJ
Elife 2017 Jan 16;6 doi: 10.7554/eLife.20898. PMID: 28092268Free PMC Article
Tan RH, Kril JJ, McGinley C, Hassani M, Masuda-Suzukake M, Hasegawa M, Mito R, Kiernan MC, Halliday GM
Ann Neurol 2016 Feb;79(2):295-305. Epub 2016 Jan 14 doi: 10.1002/ana.24565. PMID: 26599997
Lee M, Martin-Ruiz C, Graham A, Court J, Jaros E, Perry R, Iversen P, Bauman M, Perry E
Brain 2002 Jul;125(Pt 7):1483-95. doi: 10.1093/brain/awf160. PMID: 12076999

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