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Cerebellar cortical atrophy

MedGen UID:
870270
Concept ID:
C4024710
Disease or Syndrome
Synonym: Cortical and cerebellar atrophy
 
HPO: HP:0008278

Definition

Atrophy (wasting) of the cerebellar cortex. [from HPO]

Term Hierarchy

Conditions with this feature

Marinesco-Sjögren syndrome
MedGen UID:
6222
Concept ID:
C0024814
Disease or Syndrome
Marinesco-Sjögren syndrome (MSS) is characterized by cerebellar ataxia with cerebellar atrophy, dysarthria, nystagmus, early-onset (not necessarily congenital) cataracts, myopathy, muscle weakness, and hypotonia. Additional features may include psychomotor delay, hypergonadotropic hypogonadism, short stature, and various skeletal abnormalities. Children with MSS usually present with muscular hypotonia in early infancy; distal and proximal muscular weakness is noticed during the first decade of life. Later, cerebellar findings of truncal ataxia, dysdiadochokinesia, nystagmus, and dysarthria become apparent. Motor function worsens progressively for some years, then stabilizes at an unpredictable age and degree of severity. Cataracts can develop rapidly and typically require lens extraction in the first decade of life. Although many adults have severe disabilities, life span in MSS appears to be near normal.
CODAS syndrome
MedGen UID:
333031
Concept ID:
C1838180
Disease or Syndrome
CODAS is an acronym for cerebral, ocular, dental, auricular, and skeletal anomalies. CODAS syndrome is a rare disorder characterized by a distinctive constellation of features that includes developmental delay, craniofacial anomalies, cataracts, ptosis, median nasal groove, delayed tooth eruption, hearing loss, short stature, delayed epiphyseal ossification, metaphyseal hip dysplasia, and vertebral coronal clefts (summary by Strauss et al., 2015).
Infantile onset spinocerebellar ataxia
MedGen UID:
338613
Concept ID:
C1849096
Disease or Syndrome
Infantile-onset spinocerebellar ataxia (IOSCA) is a severe, progressive neurodegenerative disorder characterized by normal development until age one year, followed by onset of ataxia, muscle hypotonia, loss of deep-tendon reflexes, and athetosis. Ophthalmoplegia and sensorineural deafness develop by age seven years. By adolescence, affected individuals are profoundly deaf and no longer ambulatory; sensory axonal neuropathy, optic atrophy, autonomic nervous system dysfunction, and hypergonadotropic hypogonadism in females become evident. Epilepsy can develop into a serious and often fatal encephalopathy: myoclonic jerks or focal clonic seizures that progress to epilepsia partialis continua followed by status epilepticus with loss of consciousness.
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies
MedGen UID:
1784590
Concept ID:
C5543375
Disease or Syndrome
Growth restriction, hypoplastic kidneys, alopecia, and distinctive facies (GKAF) is characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality (Ito et al., 2018).

Professional guidelines

PubMed

Yoshida K, Kuwabara S, Nakamura K, Abe R, Matsushima A, Beppu M, Yamanaka Y, Takahashi Y, Sasaki H, Mizusawa H; Research Group on Ataxic Disorders
J Neurol Sci 2018 Jan 15;384:30-35. Epub 2017 Nov 7 doi: 10.1016/j.jns.2017.11.008. PMID: 29249373
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

Recent clinical studies

Etiology

Nourbakhsh B, Azevedo C, Nunan-Saah J, Maghzi AH, Spain R, Pelletier D, Waubant E
Mult Scler Relat Disord 2016 Jan;5:29-33. Epub 2015 Oct 21 doi: 10.1016/j.msard.2015.10.006. PMID: 26856940
Lou X, Gui QP, Sun L, Wu NZ, Lyu JH, Ma L
Clin Neuroradiol 2016 Mar;26(1):65-71. Epub 2014 Aug 23 doi: 10.1007/s00062-014-0333-3. PMID: 25150188
Hanajima R, Shadmehr R, Ohminami S, Tsutsumi R, Shirota Y, Shimizu T, Tanaka N, Terao Y, Tsuji S, Ugawa Y, Uchimura M, Inoue M, Kitazawa S
J Neurophysiol 2015 Oct;114(4):2460-71. Epub 2015 Aug 26 doi: 10.1152/jn.00145.2015. PMID: 26311179Free PMC Article
Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER
Neurology 2008 Apr 29;70(18):1623-9. doi: 10.1212/01.wnl.0000310986.48286.8e. PMID: 18443314
Schulz GM, Dingwall WO, Ludlow CL
J Speech Lang Hear Res 1999 Oct;42(5):1157-75. doi: 10.1044/jslhr.4205.1157. PMID: 10515513

Diagnosis

Gilani N, Razmara E, Ozaslan M, Abdulzahra IK, Arzhang S, Tavasoli AR, Garshasbi M
Acta Neurol Belg 2021 Jun;121(3):737-748. Epub 2021 Mar 30 doi: 10.1007/s13760-021-01655-9. PMID: 33783722
Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793
Hanajima R, Shadmehr R, Ohminami S, Tsutsumi R, Shirota Y, Shimizu T, Tanaka N, Terao Y, Tsuji S, Ugawa Y, Uchimura M, Inoue M, Kitazawa S
J Neurophysiol 2015 Oct;114(4):2460-71. Epub 2015 Aug 26 doi: 10.1152/jn.00145.2015. PMID: 26311179Free PMC Article
Schulz GM, Dingwall WO, Ludlow CL
J Speech Lang Hear Res 1999 Oct;42(5):1157-75. doi: 10.1044/jslhr.4205.1157. PMID: 10515513
Trouillas P
Can J Neurol Sci 1993 May;20 Suppl 3:S78-82. doi: 10.1017/s0317167100048575. PMID: 8334597

Therapy

Nourbakhsh B, Azevedo C, Nunan-Saah J, Maghzi AH, Spain R, Pelletier D, Waubant E
Mult Scler Relat Disord 2016 Jan;5:29-33. Epub 2015 Oct 21 doi: 10.1016/j.msard.2015.10.006. PMID: 26856940
Calabrese M, Mattisi I, Rinaldi F, Favaretto A, Atzori M, Bernardi V, Barachino L, Romualdi C, Rinaldi L, Perini P, Gallo P
J Neurol Neurosurg Psychiatry 2010 Apr;81(4):401-4. Epub 2009 Dec 3 doi: 10.1136/jnnp.2009.177733. PMID: 19965849
Nanri K, Okita M, Takeguchi M, Taguchi T, Ishiko T, Saito H, Otsuka T, Mitoma H, Koizumi K
Intern Med 2009;48(10):783-90. Epub 2009 May 15 doi: 10.2169/internalmedicine.48.1802. PMID: 19443972
Bier JC, Dethy S, Hildebrand J, Jacquy J, Manto M, Martin JJ, Seeldrayers P
J Neurol 2003 Jun;250(6):693-7. doi: 10.1007/s00415-003-1061-9. PMID: 12796831
Trouillas P, Xie J, Adeleine P, Michel D, Vighetto A, Honnorat J, Dumas R, Nighoghossian N, Laurent B
Arch Neurol 1997 Jun;54(6):749-52. doi: 10.1001/archneur.1997.00550180059013. PMID: 9193210

Prognosis

Gilani N, Razmara E, Ozaslan M, Abdulzahra IK, Arzhang S, Tavasoli AR, Garshasbi M
Acta Neurol Belg 2021 Jun;121(3):737-748. Epub 2021 Mar 30 doi: 10.1007/s13760-021-01655-9. PMID: 33783722
Nourbakhsh B, Azevedo C, Nunan-Saah J, Maghzi AH, Spain R, Pelletier D, Waubant E
Mult Scler Relat Disord 2016 Jan;5:29-33. Epub 2015 Oct 21 doi: 10.1016/j.msard.2015.10.006. PMID: 26856940
van der Knaap MS, Linnankivi T, Paetau A, Feigenbaum A, Wakusawa K, Haginoya K, Köhler W, Henneke M, Dinopoulos A, Grattan-Smith P, Brockmann K, Schiffmann R, Blaser S
Neurology 2007 Jul 10;69(2):166-71. doi: 10.1212/01.wnl.0000265592.74483.a6. PMID: 17620549
Manto MU, Setta F, Legros B, Jacquy J, Godaux E
Arch Neurol 1999 Dec;56(12):1497-500. doi: 10.1001/archneur.56.12.1497. PMID: 10593305
Alpert JN, Coats AC, Perusquia E
Neurology 1975 Jul;25(7):676-80. doi: 10.1212/wnl.25.7.676. PMID: 1171401

Clinical prediction guides

Sonoda Y, Yoshida N, Kawami K, Kitamura A, Ogawa N, Yamakawa I, Kim H, Sanada M, Imai S, Urushitani M
J Speech Lang Hear Res 2021 Mar 17;64(3):725-733. Epub 2021 Mar 1 doi: 10.1044/2020_JSLHR-20-00259. PMID: 33646821
Liang KJ, Carlson ES
Neurobiol Learn Mem 2020 Apr;170:106981. Epub 2019 Jan 7 doi: 10.1016/j.nlm.2019.01.004. PMID: 30630042Free PMC Article
Hanajima R, Shadmehr R, Ohminami S, Tsutsumi R, Shirota Y, Shimizu T, Tanaka N, Terao Y, Tsuji S, Ugawa Y, Uchimura M, Inoue M, Kitazawa S
J Neurophysiol 2015 Oct;114(4):2460-71. Epub 2015 Aug 26 doi: 10.1152/jn.00145.2015. PMID: 26311179Free PMC Article
Bier JC, Dethy S, Hildebrand J, Jacquy J, Manto M, Martin JJ, Seeldrayers P
J Neurol 2003 Jun;250(6):693-7. doi: 10.1007/s00415-003-1061-9. PMID: 12796831
Schulz GM, Dingwall WO, Ludlow CL
J Speech Lang Hear Res 1999 Oct;42(5):1157-75. doi: 10.1044/jslhr.4205.1157. PMID: 10515513

Recent systematic reviews

Du J
J Clin Neurosci 2021 Mar;85:67-71. Epub 2021 Jan 15 doi: 10.1016/j.jocn.2020.11.036. PMID: 33581793

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