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Spinocerebellar ataxia 12(SCA12)

MedGen UID:
347653
Concept ID:
C1858501
Disease or Syndrome
Synonyms: SCA12; Spinocerebellar Ataxia Type12
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, 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 (HPO, OMIM, Orphanet)
SNOMED CT: Spinocerebellar ataxia type 12 (719208005)
 
Gene (location): PPP2R2B (5q32)
OMIM®: 604326
Orphanet: ORPHA98762

Definition

The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur. [from GeneReviews]

Additional description

From GeneReviews Overview
The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs. In this GeneReview the hereditary ataxias are categorized by mode of inheritance and gene (or chromosome locus) in which pathogenic variants occur.

Clinical features

From HPO
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Apprehension of danger and dread accompanied by restlessness, tension, tachycardia, and dyspnea unattached to a clearly identifiable stimulus.
Delusions
MedGen UID:
3715
Concept ID:
C0011253
Mental or Behavioral Dysfunction
A belief that is pathological and is held despite evidence to the contrary.
Depressivity
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
An affective disorder manifested by either a dysphoric mood or loss of interest or pleasure in usual activities. The mood disturbance is prominent and relatively persistent.
Dysarthria
MedGen UID:
8510
Concept ID:
C0013362
Mental or Behavioral Dysfunction
Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)
Hyperreflexia
MedGen UID:
57738
Concept ID:
C0151889
Finding
Autonomic nervous system overreaction to stimuli, most commonly after spinal cord injury at a T-5 level and above.
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.
Action tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
Dysdiadochokinesis
MedGen UID:
115975
Concept ID:
C0234979
Sign or Symptom
A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.
Head tremor
MedGen UID:
68690
Concept ID:
C0239882
Finding
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
Parkinsonism
MedGen UID:
66079
Concept ID:
C0242422
Disease or Syndrome
A group of disorders which feature impaired motor control characterized by bradykinesia, MUSCLE RIGIDITY; TREMOR; and postural instability. Parkinsonian diseases are generally divided into primary parkinsonism (see PARKINSON DISEASE), secondary parkinsonism (see PARKINSON DISEASE, SECONDARY) and inherited forms. These conditions are associated with dysfunction of dopaminergic or closely related motor integration neuronal pathways in the BASAL GANGLIA.
Facial myokymia
MedGen UID:
78741
Concept ID:
C0270871
Disease or Syndrome
Progressive cerebellar ataxia
MedGen UID:
140727
Concept ID:
C0393525
Disease or Syndrome
Dementia
MedGen UID:
99229
Concept ID:
C0497327
Mental or Behavioral Dysfunction
A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.
Cerebellar atrophy
MedGen UID:
196624
Concept ID:
C0740279
Disease or Syndrome
Atrophy (wasting) of the cerebellum.
Sensorimotor neuropathy
MedGen UID:
207266
Concept ID:
C1112256
Disease or Syndrome
Axial dystonia
MedGen UID:
373027
Concept ID:
C1836149
Finding
A type of dystonia that affects the midline muscles, i.e., the chest, abdominal, and back muscles.
Cerebral cortical atrophy
MedGen UID:
1646740
Concept ID:
C4551583
Disease or Syndrome
Atrophy of the cortex of the cerebrum.
Facial myokymia
MedGen UID:
78741
Concept ID:
C0270871
Disease or Syndrome
Facial myokymia
MedGen UID:
78741
Concept ID:
C0270871
Disease or Syndrome
Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSpinocerebellar ataxia 12
Follow this link to review classifications for Spinocerebellar ataxia 12 in Orphanet.

Professional guidelines

PubMed

Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS.
Eur J Neurol 2010 Feb;17(2):179-88. Epub 2009 Dec 28 doi: 10.1111/j.1468-1331.2009.02873.x. PMID: 20050888

Recent clinical studies

Etiology

Choubtum L, Witoonpanich P, Hanchaiphiboolkul S, Bhidayasiri R, Jitkritsadakul O, Pongpakdee S, Wetchaphanphesat S, Boonkongchuen P, Pulkes T
BMC Neurol 2015 Sep 15;15:166. doi: 10.1186/s12883-015-0425-y. PMID: 26374734Free PMC Article
Hu T, Zhao B, Wei QQ, Shang H
J Neurol Sci 2015 Feb 15;349(1-2):243-5. Epub 2015 Jan 5 doi: 10.1016/j.jns.2014.12.045. PMID: 25586539
Li H, Ma J, Zhang X
Med Sci Monit 2014 Oct 2;20:1783-91. doi: 10.12659/MSM.891104. PMID: 25274186Free PMC Article
Chen CM, Hou YT, Liu JY, Wu YR, Lin CH, Fung HC, Hsu WC, Hsu Y, Lee SH, Hsieh-Li HM, Su MT, Chen ST, Lane HY, Lee-Chen GJ
Am J Med Genet B Neuropsychiatr Genet 2009 Jan 5;150B(1):124-9. doi: 10.1002/ajmg.b.30785. PMID: 18484086
Fujigasaki H, Verma IC, Camuzat A, Margolis RL, Zander C, Lebre AS, Jamot L, Saxena R, Anand I, Holmes SE, Ross CA, Dürr A, Brice A
Ann Neurol 2001 Jan;49(1):117-21. PMID: 11198281

Diagnosis

Srivastava AK, Takkar A, Garg A, Faruq M
Brain 2017 Jan;140(1):27-36. Epub 2016 Nov 17 doi: 10.1093/brain/aww269. PMID: 27864267
Lone WG, Khan IA, Poornima S, Shaik NA, Meena AK, Prabhakar Rao K, Hasan Q
J Genet 2016 Jun;95(2):427-32. doi: 10.1007/s12041-016-0624-3. PMID: 27350687
Li H, Ma J, Zhang X
Med Sci Monit 2014 Oct 2;20:1783-91. doi: 10.12659/MSM.891104. PMID: 25274186Free PMC Article
Swarup V, Srivastava AK, Rajeswari MR
Neurosci Res 2012 Jun;73(2):161-7. Epub 2012 Mar 16 doi: 10.1016/j.neures.2012.03.002. PMID: 22426495
Srivastava AK, Choudhry S, Gopinath MS, Roy S, Tripathi M, Brahmachari SK, Jain S
Ann Neurol 2001 Dec;50(6):796-800. PMID: 11761478

Prognosis

Li H, Ma J, Zhang X
Med Sci Monit 2014 Oct 2;20:1783-91. doi: 10.12659/MSM.891104. PMID: 25274186Free PMC Article
Swarup V, Srivastava AK, Rajeswari MR
Neurosci Res 2012 Jun;73(2):161-7. Epub 2012 Mar 16 doi: 10.1016/j.neures.2012.03.002. PMID: 22426495

Clinical prediction guides

Srivastava AK, Takkar A, Garg A, Faruq M
Brain 2017 Jan;140(1):27-36. Epub 2016 Nov 17 doi: 10.1093/brain/aww269. PMID: 27864267
Li H, Ma J, Zhang X
Med Sci Monit 2014 Oct 2;20:1783-91. doi: 10.12659/MSM.891104. PMID: 25274186Free PMC Article
Sato K, Yabe I, Fukuda Y, Soma H, Nakahara Y, Tsuji S, Sasaki H
Arch Neurol 2010 Oct;67(10):1257-62. doi: 10.1001/archneurol.2010.231. PMID: 20937954

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