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Striatal degeneration, autosomal dominant 2(ADSD2)

MedGen UID:
934758
Concept ID:
C4310791
Disease or Syndrome
Synonym: ADSD2
 
Gene (location): PDE10A (6q27)
 
Monarch Initiative: MONDO:0014835
OMIM®: 616922

Definition

Autosomal dominant striatal degeneration-2 is a neurologic disorder characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia. Although symptoms appear in the first decade, the disorder is not progressive (summary by Mencacci et al., 2016). For a discussion of genetic heterogeneity of ADSD, see ADSD1 (609161). [from OMIM]

Clinical features

From HPO
Chorea
MedGen UID:
3420
Concept ID:
C0008489
Disease or Syndrome
Chorea (Greek for 'dance') refers to widespread arrhythmic involuntary movements of a forcible, jerky and restless fashion. It is a random-appearing sequence of one or more discrete involuntary movements or movement fragments. Movements appear random because of variability in timing, duration or location. Each movement may have a distinct start and end. However, movements may be strung together and thus may appear to flow randomly from one muscle group to another. Chorea can involve the trunk, neck, face, tongue, and extremities.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Parkinsonian disorder
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Abnormal corpus striatum morphology
MedGen UID:
869185
Concept ID:
C4023607
Anatomical Abnormality
Abnormality of the striatum, which is the largest nucleus of the basal ganglia, comprising the caudate, putamen and ventral striatum, including the nucleus accumbens.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Professional guidelines

PubMed

Krygowska-Wajs A, Kachergus JM, Hulihan MM, Farrer MJ, Searcy JA, Booij J, Berendse HW, Wolters ECh, Wszolek ZK
J Neural Transm (Vienna) 2005 Nov;112(11):1487-502. Epub 2005 Mar 23 doi: 10.1007/s00702-005-0290-8. PMID: 15785861

Recent clinical studies

Etiology

Singh-Bains MK, Mehrabi NF, Sehji T, Austria MDR, Tan AYS, Tippett LJ, Dragunow M, Waldvogel HJ, Faull RLM
Ann Neurol 2019 Mar;85(3):396-405. Epub 2019 Feb 4 doi: 10.1002/ana.25413. PMID: 30635944Free PMC Article
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
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Hell J Nucl Med 2008 Sep-Dec;11(3):157-9. PMID: 19081858
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Diagnosis

Livingston JH, Lin JP, Dale RC, Gill D, Brogan P, Munnich A, Kurian MA, Gonzalez-Martinez V, De Goede CG, Falconer A, Forte G, Jenkinson EM, Kasher PR, Szynkiewicz M, Rice GI, Crow YJ
J Med Genet 2014 Feb;51(2):76-82. Epub 2013 Nov 21 doi: 10.1136/jmedgenet-2013-102038. PMID: 24262145
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Klöppel S, Henley SM, Hobbs NZ, Wolf RC, Kassubek J, Tabrizi SJ, Frackowiak RS
Neuroscience 2009 Nov 24;164(1):205-19. Epub 2009 Jan 29 doi: 10.1016/j.neuroscience.2009.01.045. PMID: 19409230Free PMC Article
Starling AJ, André VM, Cepeda C, de Lima M, Chandler SH, Levine MS
J Neurosci Res 2005 Nov 1;82(3):377-86. doi: 10.1002/jnr.20651. PMID: 16211559
Ebadi M, Govitrapong P, Sharma S, Muralikrishnan D, Shavali S, Pellett L, Schafer R, Albano C, Eken J
Biol Signals Recept 2001 May-Aug;10(3-4):224-53. doi: 10.1159/000046889. PMID: 11351130

Therapy

Kumar A, Kumar Singh S, Kumar V, Kumar D, Agarwal S, Rana MK
Gene 2015 Feb 10;556(2):91-7. Epub 2014 Nov 12 doi: 10.1016/j.gene.2014.11.022. PMID: 25447911
Hickey MA, Zhu C, Medvedeva V, Franich NR, Levine MS, Chesselet MF
Mol Cell Neurosci 2012 Feb;49(2):149-57. Epub 2011 Oct 20 doi: 10.1016/j.mcn.2011.10.007. PMID: 22044764Free PMC Article
Klöppel S, Henley SM, Hobbs NZ, Wolf RC, Kassubek J, Tabrizi SJ, Frackowiak RS
Neuroscience 2009 Nov 24;164(1):205-19. Epub 2009 Jan 29 doi: 10.1016/j.neuroscience.2009.01.045. PMID: 19409230Free PMC Article
Muenter MD, Forno LS, Hornykiewicz O, Kish SJ, Maraganore DM, Caselli RJ, Okazaki H, Howard FM Jr, Snow BJ, Calne DB
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Prognosis

Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S
Mov Disord 2015 Dec;30(14):1964-7. Epub 2015 Oct 13 doi: 10.1002/mds.26345. PMID: 26769607
Hickey MA, Zhu C, Medvedeva V, Franich NR, Levine MS, Chesselet MF
Mol Cell Neurosci 2012 Feb;49(2):149-57. Epub 2011 Oct 20 doi: 10.1016/j.mcn.2011.10.007. PMID: 22044764Free PMC Article
Jung HH, Danek A, Walker RH
Orphanet J Rare Dis 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68. PMID: 22027213Free PMC Article
Sakai M, Konagaya M, Kuru S, Kato T, Matsuoka Y, Hashizume Y
Acta Neuropathol 2003 Jan;105(1):76-80. Epub 2002 Oct 8 doi: 10.1007/s00401-002-0609-6. PMID: 12471465

Clinical prediction guides

Azuma R, Ishikawa K, Hirata K, Hashimoto Y, Takahashi M, Ishii K, Inaba A, Yokota T, Orimo S
Mov Disord 2015 Dec;30(14):1964-7. Epub 2015 Oct 13 doi: 10.1002/mds.26345. PMID: 26769607
Chiu FL, Lin JT, Chuang CY, Chien T, Chen CM, Chen KH, Hsiao HY, Lin YS, Chern Y, Kuo HC
Hum Mol Genet 2015 Nov 1;24(21):6066-79. Epub 2015 Aug 11 doi: 10.1093/hmg/ddv318. PMID: 26264576
Hickey MA, Zhu C, Medvedeva V, Franich NR, Levine MS, Chesselet MF
Mol Cell Neurosci 2012 Feb;49(2):149-57. Epub 2011 Oct 20 doi: 10.1016/j.mcn.2011.10.007. PMID: 22044764Free PMC Article
Ebadi M, Govitrapong P, Sharma S, Muralikrishnan D, Shavali S, Pellett L, Schafer R, Albano C, Eken J
Biol Signals Recept 2001 May-Aug;10(3-4):224-53. doi: 10.1159/000046889. PMID: 11351130
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Ann Neurol 1995 Feb;37(2):218-30. doi: 10.1002/ana.410370213. PMID: 7847863

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