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Spinocerebellar tract degeneration

MedGen UID:
401075
Concept ID:
C1866751
Disease or Syndrome; Finding
Synonym: Degeneration of the spinocerebellar tracts
 
HPO: HP:0002503

Conditions with this feature

Azorean disease
MedGen UID:
9841
Concept ID:
C0024408
Disease or Syndrome
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including pyramidal signs, a dystonic-rigid extrapyramidal syndrome, significant peripheral amyotrophy and generalized areflexia, progressive external ophthalmoplegia, action-induced facial and lingual fasciculations, and bulging eyes. Neurologic findings tend to evolve as the disorder progresses.
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.
Hereditary spastic paraplegia 2
MedGen UID:
374177
Concept ID:
C1839264
Disease or Syndrome
PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 manifests as spastic paraparesis with or without CNS involvement and usually normal life span. Intrafamilial variation of phenotypes can be observed, but the signs are usually fairly consistent within families. Heterozygous females may manifest mild-to-moderate signs of the disease.
Spastic ataxia-corneal dystrophy syndrome
MedGen UID:
336493
Concept ID:
C1849085
Disease or Syndrome
Extremely rare syndrome with features of spastic ataxia in association with bilateral congenital cataract, corneal dystrophy, and nonaxial myopia. It has been described in an inbred Bedouin family. Immunological abnormalities were frequent. Transmission is autosomal recessive and the disease is monogenic.
Corneal-cerebellar syndrome
MedGen UID:
341379
Concept ID:
C1849087
Disease or Syndrome
Syndrome with the unusual combination of spinocerebellar degeneration and corneal dystrophy. Three sisters born to normal consanguineous parents have been reported, one of who had only minor spinocerebellar signs without ocular involvement. This autosomal recessive syndrome differs from the Mousa-Al-Din-Al-Nassar syndrome by the subnormal intellectual development and the epithelial (versus stromal) nature of the corneal dystrophy.
Neurodegeneration with brain iron accumulation 7
MedGen UID:
1647672
Concept ID:
C4693583
Disease or Syndrome
Neurodegeneration with brain iron accumulation-7 (NBIA7) is characterized by iron accumulation in the basal ganglia and manifests as a progressive extrapyramidal syndrome with dystonia, rigidity, and choreoathetosis. Severity and rate of progression are variable (Drecourt et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of NBIA, see NBIA1 (234200).

Professional guidelines

PubMed

Rodríguez-Labrada R, Velázquez-Pérez L, Ziemann U
Clin Neurophysiol 2018 Aug;129(8):1688-1698. Epub 2018 Jun 15 doi: 10.1016/j.clinph.2018.06.003. PMID: 29940480
Horton LC, Frosch MP, Vangel MG, Weigel-DiFranco C, Berson EL, Schmahmann JD
Cerebellum 2013 Apr;12(2):176-93. doi: 10.1007/s12311-012-0412-4. PMID: 22915085Free PMC Article
Bettencourt C, Quintáns B, Ros R, Ampuero I, Yáñez Z, Pascual SI, de Yébenes JG, Sobrido MJ
Hum Mutat 2012 Sep;33(9):1315-23. Epub 2012 Jul 16 doi: 10.1002/humu.22148. PMID: 22753388

Recent clinical studies

Etiology

Koppenol R, Conceição A, Afonso IT, Afonso-Reis R, Costa RG, Tomé S, Teixeira D, da Silva JP, Côdesso JM, Brito DVC, Mendonça L, Marcelo A, Pereira de Almeida L, Matos CA, Nóbrega C
Brain 2023 Jun 1;146(6):2346-2363. doi: 10.1093/brain/awac473. PMID: 36511898Free PMC Article
Iwabuchi K, Koyano S, Yagishita S
Neuropathology 2022 Oct;42(5):379-393. Epub 2022 Jul 20 doi: 10.1111/neup.12823. PMID: 35859519
Yau WY, O'Connor E, Sullivan R, Akijian L, Wood NW
FEBS J 2018 Oct;285(19):3669-3682. Epub 2018 Sep 10 doi: 10.1111/febs.14644. PMID: 30152109
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117
Fan HC, Ho LI, Chi CS, Chen SJ, Peng GS, Chan TM, Lin SZ, Harn HJ
Cell Transplant 2014;23(4-5):441-58. doi: 10.3727/096368914X678454. PMID: 24816443

Diagnosis

Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J
Parkinsonism Relat Disord 2019 Sep;66:182-188. Epub 2019 Aug 19 doi: 10.1016/j.parkreldis.2019.08.011. PMID: 31445906
Rodríguez-Labrada R, Velázquez-Pérez L, Ziemann U
Clin Neurophysiol 2018 Aug;129(8):1688-1698. Epub 2018 Jun 15 doi: 10.1016/j.clinph.2018.06.003. PMID: 29940480
Ebrahimi-Fakhari D, Cheng C, Dies K, Diplock A, Pier DB, Ryan CS, Lanpher BC, Hirst J, Chung WK, Sahin M, Rosser E, Darras B, Bennett JT; CureSPG47
Am J Med Genet A 2018 Feb;176(2):311-318. Epub 2017 Nov 28 doi: 10.1002/ajmg.a.38561. PMID: 29193663
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117
Tsou AY, Friedman LS, Wilson RB, Lynch DR
CNS Drugs 2009;23(3):213-23. doi: 10.2165/00023210-200923030-00003. PMID: 19320530

Therapy

Nóbrega C, Codêsso JM, Mendonça L, Pereira de Almeida L
Hum Gene Ther 2019 Jul;30(7):841-854. Epub 2019 May 28 doi: 10.1089/hum.2018.157. PMID: 30760052
Chen IC, Chang CN, Chen WL, Lin TH, Chao CY, Lin CH, Lin HY, Cheng ML, Chiang MC, Lin JY, Wu YR, Lee-Chen GJ, Chen CM
Am J Chin Med 2019;47(1):63-95. Epub 2019 Jan 7 doi: 10.1142/S0192415X19500046. PMID: 30612452
Urakawa T, Matsuzawa H, Suzuki Y, Endo N, Kwee IL, Nakada T
J Neurosurg Spine 2011 Dec;15(6):648-53. Epub 2011 Sep 9 doi: 10.3171/2011.7.SPINE10843. PMID: 21905771
Tsou AY, Friedman LS, Wilson RB, Lynch DR
CNS Drugs 2009;23(3):213-23. doi: 10.2165/00023210-200923030-00003. PMID: 19320530
Lee SK, Mori S, Kim DJ, Kim SY, Kim SY, Chu M, Heo K, Lee BI, Kim DI
Epilepsia 2003 Dec;44(12):1536-40. doi: 10.1111/j.0013-9580.2003.43502.x. PMID: 14636324

Prognosis

Iwabuchi K, Koyano S, Yagishita S
Neuropathology 2022 Oct;42(5):379-393. Epub 2022 Jul 20 doi: 10.1111/neup.12823. PMID: 35859519
Craciunas SC, Gorgan MR, Ianosi B, Lee P, Burris J, Cirstea CM
J Neurosurg Spine 2017 Jun;26(6):668-678. Epub 2017 Mar 17 doi: 10.3171/2016.10.SPINE16479. PMID: 28304238
Lin DJ, Hermann KL, Schmahmann JD
Cerebellum 2016 Dec;15(6):663-679. doi: 10.1007/s12311-015-0728-y. PMID: 26467153Free PMC Article
Koeppen AH
J Neurol Sci 2011 Apr 15;303(1-2):1-12. doi: 10.1016/j.jns.2011.01.010. PMID: 21315377Free PMC Article
Zoghbi HY, Orr HT
Semin Cell Biol 1995 Feb;6(1):29-35. doi: 10.1016/1043-4682(95)90012-8. PMID: 7620119

Clinical prediction guides

Iwabuchi K, Koyano S, Yagishita S
Neuropathology 2022 Oct;42(5):379-393. Epub 2022 Jul 20 doi: 10.1111/neup.12823. PMID: 35859519
Huin V, Coarelli G, Guemy C, Boluda S, Debs R, Mochel F, Stojkovic T, Grabli D, Maisonobe T, Gaymard B, Lenglet T, Tard C, Davion JB, Sablonnière B, Monin ML, Ewenczyk C, Viala K, Charles P, Le Ber I, Reilly MM, Houlden H, Cortese A, Seilhean D, Brice A, Durr A
Brain 2022 Jun 30;145(6):2121-2132. doi: 10.1093/brain/awab449. PMID: 34927205
Hernandez-Castillo CR, Diaz R, Vaca-Palomares I, Torres DL, Chirino A, Campos-Romo A, Ochoa A, Rasmussen A, Fernandez-Ruiz J
Parkinsonism Relat Disord 2019 Sep;66:182-188. Epub 2019 Aug 19 doi: 10.1016/j.parkreldis.2019.08.011. PMID: 31445906
Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M
Mov Disord 2016 Jan;31(1):62-9. Epub 2015 Sep 21 doi: 10.1002/mds.26382. PMID: 26388117
Zoghbi HY, Orr HT
Semin Cell Biol 1995 Feb;6(1):29-35. doi: 10.1016/1043-4682(95)90012-8. PMID: 7620119

Recent systematic reviews

Traschütz A, van Gaalen J, Oosterloo M, Vreeburg M, Kamsteeg EJ, Deininger N, Rieß O, Reimold M, Haack T, Schöls L, van de Warrenburg BP, Synofzik M
Parkinsonism Relat Disord 2019 May;62:215-220. Epub 2018 Nov 29 doi: 10.1016/j.parkreldis.2018.11.027. PMID: 30522958

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