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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
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): PPP2R2B (5q32)
OMIM®: 604326
Orphanet: ORPHA98762

Definition

Spinocerebellar ataxia type 12 (SCA12) is characterized by onset of action tremor of the upper extremities in the fourth decade, slowly progressing to include ataxia and other cerebellar and cortical signs. Given the small number of individuals known to have SCA12, it is possible that other clinical manifestations have not yet been recognized. [from GeneReviews]

Clinical features

Abnormality of eye movement
MedGen UID:
99227
Concept ID:
C0497202
Finding
An abnormality in voluntary or involuntary eye movements or their control.
Anxiety
MedGen UID:
1613
Concept ID:
C0003467
Finding
Fear and anxiety are part of life. You may feel anxious before you take a test or walk down a dark street. This kind of anxiety is useful - it can make you more alert or careful. It usually ends soon after you are out of the situation that caused it. But for millions of people in the United States, the anxiety does not go away, and gets worse over time. They may have chest pains or nightmares. They may even be afraid to leave home. These people have anxiety disorders. Types include. -Panic disorder . -Obsessive-compulsive disorder . -Post-traumatic stress disorder . -Phobias . -Generalized anxiety disorder . Treatment can involve medicines, therapy or both. NIH: National Institute of Mental Health .
Delusions
MedGen UID:
3715
Concept ID:
C0011253
Mental or Behavioral Dysfunction
A belief that is pathological and is held despite evidence to the contrary.
Depression
MedGen UID:
4229
Concept ID:
C0011581
Mental or Behavioral Dysfunction
Depression is a serious medical illness that involves the brain. It's more than just a feeling of being "down in the dumps" or "blue" for a few days. If you are one of the more than 20 million people in the United States who have depression, the feelings do not go away. They persist and interfere with your everyday life. Symptoms can include : -Sadness. -Loss of interest or pleasure in activities you used to enjoy. -Change in weight. -Difficulty sleeping or oversleeping. -Energy loss. -Feelings of worthlessness. -Thoughts of death or suicide. Depression is a disorder of the brain. There are a variety of causes, including genetic, environmental, psychological, and biochemical factors. Depression usually starts between the ages of 15 and 30, and is much more common in women. Women can also get postpartum depression after the birth of a baby. Some people get seasonal affective disorder in the winter. Depression is one part of bipolar disorder. There are effective treatments for depression, including antidepressants and talk therapy. Most people do best by using both. . NIH: National Institute of Mental Health.
Kinetic tremor
MedGen UID:
65875
Concept ID:
C0234376
Sign or Symptom
Tremor that occurs during any voluntary movement. It may include visually or non-visually guided movements. Tremor during target directed movement is called intention tremor.
Head tremor
MedGen UID:
68690
Concept ID:
C0239882
Finding
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
Facial myokymia
MedGen UID:
78741
Concept ID:
C0270871
Disease or Syndrome
Facial myokymia is a fine fibrillary activity of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Peripheral 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.

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

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

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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