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Spinocerebellar ataxia 7(SCA7)

MedGen UID:
156006
Concept ID:
C0752125
Disease or Syndrome
Synonyms: ADCA type 2; ADCA, TYPE II; Autosomal dominant cerebellar ataxia type 2; Autosomal dominant cerebellar ataxia type II; Olivopontocerebellar atrophy 3; OLIVOPONTOCEREBELLAR ATROPHY III; OPCA III; SCA7
SNOMED CT: Spinocerebellar ataxia type 7 (715726000); Ataxia with pigmentary retinopathy (715726000); Cerebellar syndrome pigmentary maculopathy (715726000)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): ATXN7 (3p14.1)
 
Monarch Initiative: MONDO:0016163
OMIM®: 164500
Orphanet: ORPHA208508

Definition

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. [from GeneReviews]

Additional description

From OMIM
Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).  http://www.omim.org/entry/164500

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
Spasticity
MedGen UID:
7753
Concept ID:
C0026838
Sign or Symptom
A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.
Olivopontocerebellar atrophy
MedGen UID:
10435
Concept ID:
C0028968
Disease or Syndrome
Neuronal degeneration in the cerebellum, pontine nuclei, and inferior olivary nucleus.
Babinski sign
MedGen UID:
19708
Concept ID:
C0034935
Finding
Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
Orofacial dyskinesia
MedGen UID:
57747
Concept ID:
C0152115
Disease or Syndrome
Syndromes which feature dyskinesias as a cardinal manifestation of the disease process. Included in this category are degenerative, hereditary, post-infectious, medication-induced, post-inflammatory, and post-traumatic conditions.
Abnormality of extrapyramidal motor function
MedGen UID:
115941
Concept ID:
C0234133
Sign or Symptom
A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).
Dysmetria
MedGen UID:
68583
Concept ID:
C0234162
Finding
A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.
Mental deterioration
MedGen UID:
66713
Concept ID:
C0234985
Mental or Behavioral Dysfunction
Loss of previously present mental abilities, generally in adults.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Macular degeneration
MedGen UID:
7434
Concept ID:
C0024437
Disease or Syndrome
A nonspecific term denoting degeneration of the retinal pigment epithelium and/or retinal photoreceptor cells of the macula lutea.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.
Supranuclear ophthalmoplegia
MedGen UID:
235616
Concept ID:
C1408507
Disease or Syndrome
A vertical gaze palsy with inability to direct the gaze of the eyes downwards.
Progressive visual loss
MedGen UID:
326867
Concept ID:
C1839364
Finding
A reduction of previously attained ability to see.
Pigmentary retinopathy
MedGen UID:
1643295
Concept ID:
C4551715
Disease or Syndrome
An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia 7
Follow this link to review classifications for Spinocerebellar ataxia 7 in Orphanet.

Professional guidelines

PubMed

Teive HA, Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T
Clinics (Sao Paulo) 2012;67(5):443-9. doi: 10.6061/clinics/2012(05)07. PMID: 22666787Free PMC Article

Recent clinical studies

Etiology

Karam A, Trottier Y
Adv Exp Med Biol 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9. PMID: 29427104
Faruq M, Srivastava AK, Singh S, Gupta R, Dada T, Garg A, Behari M, Mukerji M
Indian J Med Res 2015 Feb;141(2):187-98. doi: 10.4103/0971-5916.155556. PMID: 25900954Free PMC Article
Teive HA, Munhoz RP, Arruda WO, Lopes-Cendes I, Raskin S, Werneck LC, Ashizawa T
Clinics (Sao Paulo) 2012;67(5):443-9. doi: 10.6061/clinics/2012(05)07. PMID: 22666787Free PMC Article
Stevanin G, David G, Dürr A, Giunti P, Benomar A, Abada-Bendib M, Lee MS, Agid Y, Brice A
Eur J Hum Genet 1999 Dec;7(8):889-96. doi: 10.1038/sj.ejhg.5200392. PMID: 10602364
David G, Dürr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A
Hum Mol Genet 1998 Feb;7(2):165-70. doi: 10.1093/hmg/7.2.165. PMID: 9425222

Diagnosis

Li H, Yanoga F, Abdel-Rahman MH, Cebulla CM
Clin Exp Optom 2021 May;104(4):547-549. Epub 2021 Feb 25 doi: 10.1080/08164622.2021.1878822. PMID: 33689625
Nambo-Venegas R, Valdez-Vargas C, Cisneros B, Palacios-González B, Vela-Amieva M, Ibarra-González I, Cerecedo-Zapata CM, Martínez-Cruz E, Cortés H, Reyes-Grajeda JP, Magaña JJ
Biomolecules 2020 Mar 3;10(3) doi: 10.3390/biom10030390. PMID: 32138195Free PMC Article
Riva P, Ratti A, Venturin M
Curr Alzheimer Res 2016;13(11):1219-1231. doi: 10.2174/1567205013666160622112234. PMID: 27338628
Manrique RK, Noval S, Aguilar-Amat MJ, Arpa J, Rosa I, Contreras I
J Neuroophthalmol 2009 Sep;29(3):174-9. doi: 10.1097/WNO.0b013e3181b2828e. PMID: 19726937
Bang OY, Lee PH, Kim SY, Kim HJ, Huh K
J Neurol Neurosurg Psychiatry 2004 Oct;75(10):1452-6. doi: 10.1136/jnnp.2003.029819. PMID: 15377695Free PMC Article

Therapy

Nambo-Venegas R, Valdez-Vargas C, Cisneros B, Palacios-González B, Vela-Amieva M, Ibarra-González I, Cerecedo-Zapata CM, Martínez-Cruz E, Cortés H, Reyes-Grajeda JP, Magaña JJ
Biomolecules 2020 Mar 3;10(3) doi: 10.3390/biom10030390. PMID: 32138195Free PMC Article
Chort A, Alves S, Marinello M, Dufresnois B, Dornbierer JG, Tesson C, Latouche M, Baker DP, Barkats M, El Hachimi KH, Ruberg M, Janer A, Stevanin G, Brice A, Sittler A
Brain 2013 Jun;136(Pt 6):1732-45. Epub 2013 Mar 21 doi: 10.1093/brain/awt061. PMID: 23518714
Stevanin G, Giunti P, Belal GD, Dürr A, Ruberg M, Wood N, Brice A
Hum Mol Genet 1998 Oct;7(11):1809-13. doi: 10.1093/hmg/7.11.1809. PMID: 9736784

Prognosis

Nambo-Venegas R, Valdez-Vargas C, Cisneros B, Palacios-González B, Vela-Amieva M, Ibarra-González I, Cerecedo-Zapata CM, Martínez-Cruz E, Cortés H, Reyes-Grajeda JP, Magaña JJ
Biomolecules 2020 Mar 3;10(3) doi: 10.3390/biom10030390. PMID: 32138195Free PMC Article
Sun Y, Almomani R, Breedveld GJ, Santen GW, Aten E, Lefeber DJ, Hoff JI, Brusse E, Verheijen FW, Verdijk RM, Kriek M, Oostra B, Breuning MH, Losekoot M, den Dunnen JT, van de Warrenburg BP, Maat-Kievit AJ
Hum Mutat 2013 May;34(5):706-13. Epub 2013 Mar 11 doi: 10.1002/humu.22292. PMID: 23418007
McLaughlin ME, Dryja TP
Arch Ophthalmol 2002 May;120(5):655-9. PMID: 12003621
Cruysberg JR, Eerola KU, Vrijland HR, Aandekerk AL, Kremer HP, Deutman AF
Am J Ophthalmol 2002 Mar;133(3):410-3. doi: 10.1016/s0002-9394(01)01333-2. PMID: 11860984
David G, Dürr A, Stevanin G, Cancel G, Abbas N, Benomar A, Belal S, Lebre AS, Abada-Bendib M, Grid D, Holmberg M, Yahyaoui M, Hentati F, Chkili T, Agid Y, Brice A
Hum Mol Genet 1998 Feb;7(2):165-70. doi: 10.1093/hmg/7.2.165. PMID: 9425222

Clinical prediction guides

Fiori L, Ranavolo A, Varrecchia T, Tatarelli A, Conte C, Draicchio F, Castiglia SF, Coppola G, Casali C, Pierelli F, Serrao M
Cerebellum 2020 Aug;19(4):583-596. doi: 10.1007/s12311-020-01142-6. PMID: 32410093
Nambo-Venegas R, Valdez-Vargas C, Cisneros B, Palacios-González B, Vela-Amieva M, Ibarra-González I, Cerecedo-Zapata CM, Martínez-Cruz E, Cortés H, Reyes-Grajeda JP, Magaña JJ
Biomolecules 2020 Mar 3;10(3) doi: 10.3390/biom10030390. PMID: 32138195Free PMC Article
Lebon C, Behar-Cohen F, Torriglia A
Neuroscience 2019 Feb 21;400:72-84. Epub 2019 Jan 6 doi: 10.1016/j.neuroscience.2018.12.051. PMID: 30625334
Karam A, Trottier Y
Adv Exp Med Biol 2018;1049:197-218. doi: 10.1007/978-3-319-71779-1_9. PMID: 29427104
Faruq M, Srivastava AK, Singh S, Gupta R, Dada T, Garg A, Behari M, Mukerji M
Indian J Med Res 2015 Feb;141(2):187-98. doi: 10.4103/0971-5916.155556. PMID: 25900954Free PMC Article

Recent systematic reviews

Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH
Seizure 2019 Jul;69:180-185. Epub 2018 Sep 2 doi: 10.1016/j.seizure.2018.08.027. PMID: 31059981

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