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Spinocerebellar ataxia type 8(SCA8)

MedGen UID:
332457
Concept ID:
C1837454
Disease or Syndrome
Synonym: SCA8
SNOMED CT: Spinocerebellar ataxia type 8 (715753001)
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.
 
Genes (locations): ATXN8 (13q21); ATXN8OS (13q21.33)
 
Monarch Initiative: MONDO:0012116
OMIM®: 608768
Orphanet: ORPHA98760

Definition

SCA8 is a slowly progressive ataxia with onset typically in the third to fifth decade but with a range from before age one year to after age 60 years. Common initial manifestations are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability. Over the disease course other findings can include eye movement abnormalities (nystagmus, abnormal pursuit and abnormal saccades, and, rarely, ophthalmoplegia); upper motor neuron involvement; extrapyramidal signs; brain stem signs (dysphagia and poor cough reflex); sensory neuropathy; and cognitive impairment (e.g., executive dysfunction, psychomotor slowing and other features of cerebellar cognitive-affective disorder in some). Life span is typically not shortened. [from GeneReviews]

Clinical features

From HPO
Dysphagia
MedGen UID:
41440
Concept ID:
C0011168
Disease or Syndrome
Difficulty in swallowing.
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.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Tremor
MedGen UID:
21635
Concept ID:
C0040822
Sign or Symptom
An unintentional, oscillating to-and-fro muscle movement about a joint axis.
Sensory neuropathy
MedGen UID:
101791
Concept ID:
C0151313
Disease or Syndrome
Peripheral neuropathy affecting the sensory nerves.
Abnormal pyramidal sign
MedGen UID:
68582
Concept ID:
C0234132
Sign or Symptom
Functional neurological abnormalities related to dysfunction of the pyramidal tract.
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Incoordination
MedGen UID:
141714
Concept ID:
C0520966
Finding
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Morphological abnormality of the pyramidal tract
MedGen UID:
892809
Concept ID:
C4021761
Anatomical Abnormality
Any structural abnormality of the pyramidal tract, whose chief element, the corticospinal tract, is the only direct connection between the brain and the spinal cord. In addition to the corticospinal tract, the pyramidal system includes the corticobulbar, corticomesencephalic, and corticopontine tracts.
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.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.
Dysmetric saccades
MedGen UID:
322908
Concept ID:
C1836392
Finding
The controller signal for saccadic eye movements has two components
Impaired smooth pursuit
MedGen UID:
325176
Concept ID:
C1837458
Finding
An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 8
Follow this link to review classifications for Spinocerebellar ataxia type 8 in Orphanet.

Professional guidelines

PubMed

Du YC, Dong Y, Cheng HL, Li QF, Yang L, Shao YR, Ma Y, Ni W, Gan SR, Wu ZY
Parkinsonism Relat Disord 2020 Sep;78:116-121. Epub 2020 Aug 4 doi: 10.1016/j.parkreldis.2020.07.024. PMID: 32814229
Domingues BMD, Nascimento FA, Meira AT, Moro A, Raskin S, Ashizawa T, Teive HAG
Cerebellum 2019 Oct;18(5):849-854. doi: 10.1007/s12311-019-01064-y. PMID: 31377949
Zesiewicz TA, Wilmot G, Kuo SH, Perlman S, Greenstein PE, Ying SH, Ashizawa T, Subramony SH, Schmahmann JD, Figueroa KP, Mizusawa H, Schöls L, Shaw JD, Dubinsky RM, Armstrong MJ, Gronseth GS, Sullivan KL
Neurology 2018 Mar 6;90(10):464-471. Epub 2018 Feb 9 doi: 10.1212/WNL.0000000000005055. PMID: 29440566Free PMC Article

Recent clinical studies

Etiology

Castelli LM, Huang WP, Lin YH, Chang KY, Hautbergue GM
Biochem Soc Trans 2021 Apr 30;49(2):775-792. doi: 10.1042/BST20200690. PMID: 33729487Free PMC Article
Zhou Y, Yuan Y, Liu Z, Zeng S, Chen Z, Shen L, Jiang H, Xia K, Tang B, Wang J
J Neurol 2019 Dec;266(12):2979-2986. Epub 2019 Aug 30 doi: 10.1007/s00415-019-09519-2. PMID: 31471687
Torrens L, Burns E, Stone J, Graham C, Wright H, Summers D, Sellar R, Porteous M, Warner J, Zeman A
Acta Neurol Scand 2008 Jan;117(1):41-8. doi: 10.1111/j.1600-0404.2007.00904.x. PMID: 18095954
Mutsuddi M, Rebay I
RNA Biol 2005 Apr;2(2):49-52. Epub 2005 Apr 25 doi: 10.4161/rna.2.2.1682. PMID: 17132942
Cellini E, Nacmias B, Forleo P, Piacentini S, Guarnieri BM, Serio A, Calabrò A, Renzi D, Sorbi S
Arch Neurol 2001 Nov;58(11):1856-9. doi: 10.1001/archneur.58.11.1856. PMID: 11708995

Diagnosis

Jiang L, Zhu W, Zhao G, Cao L
Neurosciences (Riyadh) 2023 Jul;28(3):199-203. doi: 10.17712/nsj.2023.3.20230032. PMID: 37482381Free PMC Article
Neyal N, Keegan BM, Kantarci OH, Zeydan B
Mult Scler 2023 Aug;29(9):1195-1198. Epub 2023 Jul 3 doi: 10.1177/13524585231180549. PMID: 37401111Free PMC Article
Zhou Y, Yuan Y, Liu Z, Zeng S, Chen Z, Shen L, Jiang H, Xia K, Tang B, Wang J
J Neurol 2019 Dec;266(12):2979-2986. Epub 2019 Aug 30 doi: 10.1007/s00415-019-09519-2. PMID: 31471687
Cintra VP, Lourenço CM, Rocha MMV, Tomaselli PJ, Marques W Jr
Acta Neurol Scand 2017 Nov;136(5):541-545. Epub 2017 Feb 22 doi: 10.1111/ane.12744. PMID: 28229454
Ikeda Y, Ranum LP, Day JW
Handb Clin Neurol 2012;103:493-505. doi: 10.1016/B978-0-444-51892-7.00031-0. PMID: 21827909

Therapy

Swaminathan A
J Med Case Rep 2019 Nov 15;13(1):333. doi: 10.1186/s13256-019-2270-x. PMID: 31727178Free PMC Article
Lilja A, Hämäläinen P, Kaitaranta E, Rinne R
J Neurol Sci 2005 Oct 15;237(1-2):31-8. doi: 10.1016/j.jns.2005.05.008. PMID: 15958266

Prognosis

Sawada J, Katayama T, Tokashiki T, Kikuchi S, Kano K, Takahashi K, Saito T, Adachi Y, Okamoto Y, Yoshimura A, Takashima H, Hasebe N
Intern Med 2020 Jan 15;59(2):277-283. Epub 2019 Sep 26 doi: 10.2169/internalmedicine.2905-19. PMID: 31554751Free PMC Article
Tanaka E, Maruyama H, Morino H, Kawakami H
Hiroshima J Med Sci 2011 Sep;60(3):63-6. PMID: 22053702
Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP
PLoS Genet 2009 Aug;5(8):e1000600. Epub 2009 Aug 14 doi: 10.1371/journal.pgen.1000600. PMID: 19680539Free PMC Article
Cellini E, Piacentini S, Nacmias B, Forleo P, Tedde A, Bagnoli S, Ciantelli M, Sorbi S
Arch Neurol 2002 Dec;59(12):1952-3. doi: 10.1001/archneur.59.12.1952. PMID: 12470185
Nemes JP, Benzow KA, Moseley ML, Ranum LP, Koob MD
Hum Mol Genet 2000 Jun 12;9(10):1543-51. doi: 10.1093/hmg/9.10.1543. PMID: 10888605

Clinical prediction guides

Zhou Y, Yuan Y, Liu Z, Zeng S, Chen Z, Shen L, Jiang H, Xia K, Tang B, Wang J
J Neurol 2019 Dec;266(12):2979-2986. Epub 2019 Aug 30 doi: 10.1007/s00415-019-09519-2. PMID: 31471687
Cintra VP, Lourenço CM, Rocha MMV, Tomaselli PJ, Marques W Jr
Acta Neurol Scand 2017 Nov;136(5):541-545. Epub 2017 Feb 22 doi: 10.1111/ane.12744. PMID: 28229454
Daughters RS, Tuttle DL, Gao W, Ikeda Y, Moseley ML, Ebner TJ, Swanson MS, Ranum LP
PLoS Genet 2009 Aug;5(8):e1000600. Epub 2009 Aug 14 doi: 10.1371/journal.pgen.1000600. PMID: 19680539Free PMC Article
Zeman A, Stone J, Porteous M, Burns E, Barron L, Warner J
J Neurol Neurosurg Psychiatry 2004 Mar;75(3):459-65. doi: 10.1136/jnnp.2003.018895. PMID: 14966165Free PMC Article
Vincent JB, Yuan QP, Schalling M, Adolfsson R, Azevedo MH, Macedo A, Bauer A, DallaTorre C, Medeiros HM, Pato MT, Pato CN, Bowen T, Guy CA, Owen MJ, O'Donovan MC, Paterson AD, Petronis A, Kennedy JL
Am J Med Genet 2000 Dec 4;96(6):873-6. doi: 10.1002/1096-8628(20001204)96:6<873::aid-ajmg37>3.0.co;2-9. PMID: 11121201

Recent systematic reviews

Samukawa M, Hirano M, Saigoh K, Kawai S, Hamada Y, Takahashi D, Nakamura Y, Kusunoki S
Cerebellum 2019 Feb;18(1):76-84. doi: 10.1007/s12311-018-0955-0. PMID: 29916049

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