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Olivopontocerebellar atrophy(OPCA)

MedGen UID:
10435
Concept ID:
C0028968
Disease or Syndrome
Synonyms: Olivopontocerebellar Atrophies; Olivopontocerebellar degeneration; OPCA
SNOMED CT: Olivopontocerebellar degeneration (67761004); Olivopontocerebellar atrophy (67761004); Déjérine-Thomas syndrome (67761004); Dejerine-Thomas syndrome (67761004); Thomas' syndrome (67761004); OPCA - Olivopontocerebellar atrophy (67761004); Olivocerebellar atrophy (67761004)
 
HPO: HP:0002542
Monarch Initiative: MONDO:0002017

Definition

Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus. [from HPO]

Term Hierarchy

Conditions with this feature

DE SANCTIS-CACCHIONE SYNDROME
MedGen UID:
75550
Concept ID:
C0265201
Disease or Syndrome
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Spinocerebellar ataxia type 1
MedGen UID:
155703
Concept ID:
C0752120
Disease or Syndrome
Spinocerebellar ataxia type 1 (SCA1) is characterized by progressive cerebellar ataxia, dysarthria, and eventual deterioration of bulbar functions. Early in the disease, affected individuals may have gait disturbance, slurred speech, difficulty with balance, brisk deep tendon reflexes, hypermetric saccades, nystagmus, and mild dysphagia. Later signs include slowing of saccadic velocity, development of up-gaze palsy, dysmetria, dysdiadochokinesia, and hypotonia. In advanced stages, muscle atrophy, decreased deep tendon reflexes, loss of proprioception, cognitive impairment (e.g., frontal executive dysfunction, impaired verbal memory), chorea, dystonia, and bulbar dysfunction are seen. Onset is typically in the third or fourth decade, although childhood onset and late-adult onset have been reported. Those with onset after age 60 years may manifest a pure cerebellar phenotype. Interval from onset to death varies from ten to 30 years; individuals with juvenile onset show more rapid progression and more severe disease. Anticipation is observed. An axonal sensory neuropathy detected by electrophysiologic testing is common; brain imaging typically shows cerebellar and brain stem atrophy.
Spinocerebellar ataxia type 2
MedGen UID:
155704
Concept ID:
C0752121
Disease or Syndrome
Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course. Age of onset is typically in the fourth decade with a ten- to 15-year disease duration.
Spinocerebellar ataxia 7
MedGen UID:
156006
Concept ID:
C0752125
Disease or Syndrome
Spinocerebellar ataxia type 7 (SCA7) comprises a phenotypic spectrum ranging from adolescent- or adult-onset progressive cerebellar ataxia and cone-rod retinal dystrophy to infantile or early-childhood onset with multiorgan failure, an accelerated course, and early death. Anticipation in this nucleotide repeat disorder may be so dramatic that within a family a child with infantile or early-childhood onset may be diagnosed with what is thought to be an unrelated neurodegenerative disorder years before a parent or grandparent with a CAG repeat expansion becomes symptomatic. In adolescent-onset SCA7, the initial manifestation is typically impaired vision, followed by cerebellar ataxia. In those with adult onset, progressive cerebellar ataxia usually precedes the onset of visual manifestations. While the rate of progression varies in these two age groups, the eventual result for almost all affected individuals is loss of vision, severe dysarthria and dysphagia, and a bedridden state with loss of motor control.
Mitochondrial complex III deficiency nuclear type 2
MedGen UID:
767519
Concept ID:
C3554605
Disease or Syndrome
Mitochondrial complex III deficiency nuclear type 2 is an autosomal recessive severe neurodegenerative disorder that usually presents in childhood, but may show later onset, even in adulthood. Affected individuals have motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain. Most patients also have cognitive impairment and axonal neuropathy and become severely disabled later in life (summary by Ghezzi et al., 2011). The disorder may present clinically as spinocerebellar ataxia or Leigh syndrome, or with psychiatric disturbances (Morino et al., 2014; Atwal, 2014; Nogueira et al., 2013). For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (124000).
Multiple system atrophy 1, susceptibility to
MedGen UID:
811503
Concept ID:
C3714927
Finding
Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA; 163890) or tau (MAPT; 157140) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013). MSA is similar clinically and pathologically to Parkinson disease (PD; 168600) and Lewy body dementia (127750). See also PARK1 (168601), which is specifically caused by mutation in the SNCA gene. Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).
IFAP syndrome 1, with or without BRESHECK syndrome
MedGen UID:
1746744
Concept ID:
C5399971
Disease or Syndrome
The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11.

Professional guidelines

PubMed

Gazulla J, Ruiz-Gazulla C, Tintore M
Curr Pharm Des 2015;21(34):4989-95. doi: 10.2174/1381612821666150914120923. PMID: 26365142
Takei A, Hamada T, Yabe I, Sasaki H
Cerebellum 2005;4(3):211-5. doi: 10.1080/14734220500222318. PMID: 16147954
García de la Rocha ML, Moreno Martínez JM, Garrido Carrión A, Fernández PM, Martín Araguz A
Acta Neurol Scand 1988 Mar;77(3):234-8. doi: 10.1111/j.1600-0404.1988.tb05901.x. PMID: 3163874

Recent clinical studies

Etiology

Bower PG
Auton Neurosci 2018 May;211:39-42. Epub 2017 Dec 16 doi: 10.1016/j.autneu.2017.12.006. PMID: 29269241
Ozawa T, Onodera O
Proc Jpn Acad Ser B Phys Biol Sci 2017;93(5):251-258. doi: 10.2183/pjab.93.016. PMID: 28496050Free PMC Article
Donato SD, Mariotti C, Taroni F
Handb Clin Neurol 2012;103:399-421. doi: 10.1016/B978-0-444-51892-7.00025-5. PMID: 21827903
Jellinger KA
Mov Disord 2003 Sep;18 Suppl 6:S2-12. doi: 10.1002/mds.10557. PMID: 14502650
Ormerod IE, Harding AE, Miller DH, Johnson G, MacManus D, du Boulay EP, Kendall BE, Moseley IF, McDonald WI
J Neurol Neurosurg Psychiatry 1994 Jan;57(1):51-7. doi: 10.1136/jnnp.57.1.51. PMID: 8301305Free PMC Article

Diagnosis

Hopfner F, Tietz AK, Ruf VC, Ross OA, Koga S, Dickson D, Aguzzi A, Attems J, Beach T, Beller A, Cheshire WP, van Deerlin V, Desplats P, Deuschl G, Duyckaerts C, Ellinghaus D, Evsyukov V, Flanagan ME, Franke A, Frosch MP, Gearing M, Gelpi E, van Gerpen JA, Ghetti B, Glass JD, Grinberg LT, Halliday G, Helbig I, Höllerhage M, Huitinga I, Irwin DJ, Keene DC, Kovacs GG, Lee EB, Levin J, Martí MJ, Mackenzie I, McKeith I, Mclean C, Mollenhauer B, Neumann M, Newell KL, Pantelyat A, Pendziwiat M, Peters A, Molina Porcel L, Rabano A, Matěj R, Rajput A, Rajput A, Reimann R, Scott WK, Seeley W, Selvackadunco S, Simuni T, Stadelmann C, Svenningsson P, Thomas A, Trenkwalder C, Troakes C, Trojanowski JQ, Uitti RJ, White CL, Wszolek ZK, Xie T, Ximelis T, Yebenes J; Alzheimer's Disease Genetics Consortium, Müller U, Schellenberg GD, Herms J, Kuhlenbäumer G, Höglinger G
Mov Disord 2022 Oct;37(10):2110-2121. Epub 2022 Aug 23 doi: 10.1002/mds.29164. PMID: 35997131Free PMC Article
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
Jellinger KA
J Alzheimers Dis 2018;62(3):1141-1179. doi: 10.3233/JAD-170397. PMID: 28984582Free PMC Article
Mascalchi M
Neurol Sci 2008 Oct;29 Suppl 3:311-3. doi: 10.1007/s10072-008-1005-3. PMID: 18941720
Choi IS, Lee MS, Kim WT, Choi KK
Yonsei Med J 1988;29(3):233-8. doi: 10.3349/ymj.1988.29.3.233. PMID: 3195154

Therapy

Gazulla J, Ruiz-Gazulla C, Tintore M
Curr Pharm Des 2015;21(34):4989-95. doi: 10.2174/1381612821666150914120923. PMID: 26365142
Kuzdas-Wood D, Stefanova N, Jellinger KA, Seppi K, Schlossmacher MG, Poewe W, Wenning GK
Prog Neurobiol 2014 Jul;118:19-35. Epub 2014 Mar 2 doi: 10.1016/j.pneurobio.2014.02.007. PMID: 24598411Free PMC Article
Trujillo-Martín MM, Serrano-Aguilar P, Monton-Alvarez F, Carrillo-Fumero R
Mov Disord 2009 Jun 15;24(8):1111-24. doi: 10.1002/mds.22564. PMID: 19412936
Takei A, Hamada T, Yabe I, Sasaki H
Cerebellum 2005;4(3):211-5. doi: 10.1080/14734220500222318. PMID: 16147954
Wenning GK, Quinn NP
Baillieres Clin Neurol 1997 Apr;6(1):187-204. PMID: 9426875

Prognosis

Mascalchi M, Vella A
Handb Clin Neurol 2012;103:85-110. doi: 10.1016/B978-0-444-51892-7.00004-8. PMID: 21827882
Berciano J, Boesch S, Pérez-Ramos JM, Wenning GK
Mov Disord 2006 Oct;21(10):1607-13. doi: 10.1002/mds.21052. PMID: 16874757
Takei A, Hamada T, Yabe I, Sasaki H
Cerebellum 2005;4(3):211-5. doi: 10.1080/14734220500222318. PMID: 16147954
Manto MU
Cerebellum 2005;4(1):2-6. doi: 10.1080/14734220510007914. PMID: 15895552
Costa C, Duyckaerts C
Curr Opin Neurol 1993 Dec;6(6):865-71. doi: 10.1097/00019052-199312000-00007. PMID: 8293161

Clinical prediction guides

Campese N, Fanciulli A, Stefanova N, Haybaeck J, Kiechl S, Wenning GK
J Neural Transm (Vienna) 2021 Oct;128(10):1481-1494. Epub 2021 Jul 28 doi: 10.1007/s00702-021-02383-3. PMID: 34319460Free PMC Article
Mascalchi M, Vella A
Int J Mol Sci 2020 Feb 4;21(3) doi: 10.3390/ijms21031020. PMID: 32033120Free PMC Article
Mascalchi M, Vella A
Int Rev Neurobiol 2018;143:109-162. Epub 2018 Oct 29 doi: 10.1016/bs.irn.2018.09.011. PMID: 30473193
Ormerod IE, Harding AE, Miller DH, Johnson G, MacManus D, du Boulay EP, Kendall BE, Moseley IF, McDonald WI
J Neurol Neurosurg Psychiatry 1994 Jan;57(1):51-7. doi: 10.1136/jnnp.57.1.51. PMID: 8301305Free PMC Article
Savoiardo M, Strada L, Girotti F, Zimmerman RA, Grisoli M, Testa D, Petrillo R
Radiology 1990 Mar;174(3 Pt 1):693-6. doi: 10.1148/radiology.174.3.2305051. PMID: 2305051

Recent systematic reviews

Trujillo-Martín MM, Serrano-Aguilar P, Monton-Alvarez F, Carrillo-Fumero R
Mov Disord 2009 Jun 15;24(8):1111-24. doi: 10.1002/mds.22564. PMID: 19412936
Ben-Shlomo Y, Wenning GK, Tison F, Quinn NP
Neurology 1997 Feb;48(2):384-93. doi: 10.1212/wnl.48.2.384. PMID: 9040727

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