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Spinocerebellar ataxia type 11(SCA11)

MedGen UID:
346799
•Concept ID:
C1858351
•
Disease or Syndrome
Synonyms: SCA11; Spinocerebellar Ataxia Type11
SNOMED CT: Spinocerebellar ataxia type 11 (719207000)
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.
Autosomal dominant inheritance (Orphanet)
 
Gene (location): TTBK2 (15q15.2)
 
Monarch Initiative: MONDO:0011464
OMIM®: 604432
Orphanet: ORPHA98767

Definition

Spinocerebellar ataxia type 11 (SCA11) is characterized by progressive cerebellar ataxia and abnormal eye signs (jerky pursuit, horizontal and vertical nystagmus). Pyramidal features are seen on occasion. Peripheral neuropathy and dystonia are rare. Six families have been reported to date, one each from the UK, Pakistan, France, Germany, Denmark, and China. Age of onset ranged from early childhood to the mid-40s. Life span is thought to be normal. [from GeneReviews]

Additional description

From OMIM
Spinocerebellar ataxia-11 (SCA11) is a pure form of autosomal dominant cerebellar ataxia, which is a relatively benign, late-onset, slowly progressive neurologic disorder characterized by an uncomplicated cerebellar syndrome (Worth et al., 1999). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).  http://www.omim.org/entry/604432

Clinical features

From HPO
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.
See: Feature record | Search on this feature
Hyperreflexia
MedGen UID:
57738
•Concept ID:
C0151889
•
Finding
Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.
See: Feature record | Search on this feature
Progressive cerebellar ataxia
MedGen UID:
140727
•Concept ID:
C0393525
•
Disease or Syndrome
See: Feature record | Search on this feature
Truncal ataxia
MedGen UID:
96535
•Concept ID:
C0427190
•
Sign or Symptom
Truncal ataxia is a sign of ataxia characterized by instability of the trunk. It usually occurs during sitting.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Limb ataxia
MedGen UID:
196692
•Concept ID:
C0750937
•
Finding
A kind of ataxia that affects movements of the extremities.
See: Feature record | Search on this feature
Gait ataxia
MedGen UID:
155642
•Concept ID:
C0751837
•
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.
See: Feature record | Search on this feature
Gait imbalance
MedGen UID:
373028
•Concept ID:
C1836150
•
Finding
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature
Jerky ocular pursuit movements
MedGen UID:
342908
•Concept ID:
C1853558
•
Finding
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia type 11
Follow this link to review classifications for Spinocerebellar ataxia type 11 in Orphanet.

Professional guidelines

PubMed

Genotype-phenotype correlations, dystonia and disease progression in spinocerebellar ataxia type 14.
Chelban V, Wiethoff S, Fabian-Jessing BK, Haridy NA, Khan A, Efthymiou S, Becker EBE, O'Connor E, Hersheson J, Newland K, Hojland AT, Gregersen PA, Lindquist SG, Petersen MB, Nielsen JE, Nielsen M, Wood NW, Giunti P, Houlden H
Mov Disord 2018 Jul;33(7):1119-1129. Epub 2018 Mar 30 doi: 10.1002/mds.27334. PMID: 29603387Free PMC Article
Spinocerebellar ataxia type 3 in Israel: phenotype and genotype of a Jew Yemenite subpopulation.
Zaltzman R, Sharony R, Klein C, Gordon CR
J Neurol 2016 Nov;263(11):2207-2214. Epub 2016 Aug 8 doi: 10.1007/s00415-016-8251-8. PMID: 27502086
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I.
Rivaud-Pechoux S, Dürr A, Gaymard B, Cancel G, Ploner CJ, Agid Y, Brice A, Pierrot-Deseilligny C
Ann Neurol 1998 Mar;43(3):297-302. doi: 10.1002/ana.410430306. PMID: 9506545

Recent clinical studies

Etiology

Spinocerebellar ataxia type 11 (SCA11): An update.
Gong Z, Lei L
Eur J Neurosci 2023 Jul;58(2):2623-2640. Epub 2023 Jun 16 doi: 10.1111/ejn.16054. PMID: 37329117
Spinocerebellar ataxia type 11 in the Chinese Han population.
Xu Q, Li X, Wang J, Yi J, Lei L, Shen L, Jiang H, Xia K, Pan Q, Tang B
Neurol Sci 2010 Feb;31(1):107-9. Epub 2009 Sep 19 doi: 10.1007/s10072-009-0129-4. PMID: 19768375
Clinical and genetic analysis of spinocerebellar ataxia type 11.
Johnson J, Wood N, Giunti P, Houlden H
Cerebellum 2008;7(2):159-64. doi: 10.1007/s12311-008-0022-3. PMID: 18418680

Diagnosis

Spinocerebellar ataxia type 11 (SCA11): An update.
Gong Z, Lei L
Eur J Neurosci 2023 Jul;58(2):2623-2640. Epub 2023 Jun 16 doi: 10.1111/ejn.16054. PMID: 37329117
Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2.
Nieding K, Matschke V, Meuth SG, Lang F, Seebohm G, Strutz-Seebohm N
Cell Physiol Biochem 2016;39(4):1444-52. Epub 2016 Sep 9 doi: 10.1159/000447847. PMID: 27607061
Spinocerebellar ataxia type 11.
Giunti P, Houlden H, Gardner-Thorpe C, Worth PF, Johnson J, Hilton DA, Revesz T, Davis MB, Wood NW
Handb Clin Neurol 2012;103:521-34. doi: 10.1016/B978-0-444-51892-7.00033-4. PMID: 21827911
Spinocerebellar ataxia type 11 in the Chinese Han population.
Xu Q, Li X, Wang J, Yi J, Lei L, Shen L, Jiang H, Xia K, Pan Q, Tang B
Neurol Sci 2010 Feb;31(1):107-9. Epub 2009 Sep 19 doi: 10.1007/s10072-009-0129-4. PMID: 19768375
Clinical and genetic analysis of spinocerebellar ataxia type 11.
Johnson J, Wood N, Giunti P, Houlden H
Cerebellum 2008;7(2):159-64. doi: 10.1007/s12311-008-0022-3. PMID: 18418680

Prognosis

Spinocerebellar ataxia type 11 (SCA11): An update.
Gong Z, Lei L
Eur J Neurosci 2023 Jul;58(2):2623-2640. Epub 2023 Jun 16 doi: 10.1111/ejn.16054. PMID: 37329117

Clinical prediction guides

Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2.
Nieding K, Matschke V, Meuth SG, Lang F, Seebohm G, Strutz-Seebohm N
Cell Physiol Biochem 2016;39(4):1444-52. Epub 2016 Sep 9 doi: 10.1159/000447847. PMID: 27607061

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