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Spinocerebellar Ataxia Type 12

SCA12


Presentation

  • To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy.[ncbi.nlm.nih.gov]
  • Action tremor is the usual presenting sign. Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ataxia.[ncbi.nlm.nih.gov]
  • Hereby we present 10 cases of SCA-12 with emphasis upon clinical presentations. Methods: Medical history, demographic data and detailed clinical presentation were studied.[mdsabstracts.org]
  • Our data indicate that SCA12 is also present in Italian patients, and its genetic testing should be applied to both sporadic and familial ataxias.[ncbi.nlm.nih.gov]
Abnormal Eye Movement
  • OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes[ncbi.nlm.nih.gov]
  • Most individuals present in the fourth decade with upper extremity tremor, progressing over several decades to include head tremor, gait ataxia, dysmetria, dysdiadokinesis, hyperreflexia, paucity of movement, abnormal eye movements and, in the oldest[nature.com]
  • eye movement Abnormal eye movements Eye movement abnormalities Eye movement issue [ more ] 0000496 Action tremor 0002345 Anxiety Excessive, persistent worry and fear 0000739 Autosomal dominant inheritance 0000006 Axial dystonia 0002530 Cerebral cortical[rarediseases.info.nih.gov]
  • Table 1 Clinical observations in six members of the Australian SCA 14 family Examination revealed cerebellar ataxia with abnormal eye movements and brisk reflexes.[jnnp.bmj.com]
  • Patients have spells of walking difficulty, dysarthria (difficulty with speech) and nystagmus (abnormal eye movements) with complete recovery between episodes. They may be triggered by stress, being startled or a sudden movement.[bcm.edu]
Hyperreflexia
  • In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory[ncbi.nlm.nih.gov]
  • Subsequent development of ataxia and hyperreflexia suggests spinocerebellar ataxia. In the index SCA12 kindred, which resides in North America and is of German ancestry, parkinsonism, anxiety, depression, and cognitive dysfunction are not uncommon.[ncbi.nlm.nih.gov]
  • Abstract SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia.[ncbi.nlm.nih.gov]
  • OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes[ncbi.nlm.nih.gov]
Dysmetria
  • Abstract SCA12 is an autosomal dominant cerebellar ataxia characterized by onset in the fourth decade of life with action tremor of arms and head, mild ataxia, dysmetria, and hyperreflexia.[ncbi.nlm.nih.gov]
  • OBJECTIVE: SCA12 is a progressive autosomal-dominant disorder, caused by a CAG/CTG repeat expansion in PPP2R2B on chromosome 5q32, and characterized by tremor, gait ataxia, hyperreflexia, dysmetria, abnormal eye movements, anxiety, depression, and sometimes[ncbi.nlm.nih.gov]
  • Informed Consent Required: This test requires physician attestation that patient consent has been received Technical Information Clinical Significance: Detect repeat expansions in SCA12 gene Typical Presentation: Tremor of arms and head, mild ataxia, dysmetria[athenadiagnostics.com]
  • Most individuals present in the fourth decade with upper extremity tremor, progressing over several decades to include head tremor, gait ataxia, dysmetria, dysdiadokinesis, hyperreflexia, paucity of movement, abnormal eye movements and, in the oldest[nature.com]
  • Hyperreflexia (8/10) was a common feature, and cerebellar signs (8/10), including ataxia, dysmetria, and dysarthria, developed gradually but were less prominent and disabling than cerebellar dysfunction in other SCA.[neurology.org]
Neurologic Manifestation
  • manifestations of ataxic disorders.[books.google.es]
  • manifestations beginning in childhood relate to complementation group Ataxia Telangiectasia Progressive ataxia plus Autosomal recessive 11q22-q23 ATM gene Product belongs to the P-13 kinase family of proteins involved in DNA damage recognition Ataxia[emedicine.medscape.com]
Tremulousness
  • Patient AT476/1498 had disease onset at 61 years with tremulous speech as the onset symptom, while the heterozygous individuals with CAG-45 had age of onset at 57 and 60 years, respectively.[academic.oup.com]
  • Approximately 40% of patients receiving varenicline dropped out of the study, however, because of tremulousness, weakness, and unpleasant dreams.[mdedge.com]
Axial Dystonia
  • Abnormality of eye movement Abnormal eye movement Abnormal eye movements Eye movement abnormalities Eye movement issue [ more ] 0000496 Action tremor 0002345 Anxiety Excessive, persistent worry and fear 0000739 Autosomal dominant inheritance 0000006 Axial[rarediseases.info.nih.gov]

Workup

White Matter Lesions
  • . , 2013 ), Fazekas scale for white matter lesions ( Leaper et al. , 2001 ), global cortical atrophy (GCA) scale and cerebellar atrophy by visual assessment.[academic.oup.com]

Treatment

  • By contrast, ectopic Drosophila Sod2 expression and antioxidant treatment reduced ROS and caspase 3 activity and extended the life span of the SCA12 fly model.[ncbi.nlm.nih.gov]
  • MANAGEMENT: Treatment of manifestations : Beta-blockers (clonazepam, phenobarbital derivatives) and benzodiazepines can decrease tremor amplitude in some affected individuals; standard treatment for psychiatric syndromes; physical therapy to help maintain[ncbi.nlm.nih.gov]
  • Action tremor, anxiety, and depression in SCA12 have responded to usual treatments for these disorders.[ncbi.nlm.nih.gov]
  • Action tremor, anxiety, and depression in SCA12 have responded to usual treatments for these disorders. SCA12 may be considered in patients who present with action tremor and later develop signs of cerebellar and cortical dysfunction.[jhu.pure.elsevier.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • The objective of the current study was to identify the aberrantly expressed plasma proteins for their potential application in therapy or diagnosis/prognosis of SCA12.[ncbi.nlm.nih.gov]
  • Prognosis Prognosis is essentially good. In many cases progression of the illness is slow and in general life expectancy is not affected.[orpha.net]
  • Prognosis Prognosis is essentially good. In many cases progression of the illness is slow and in general life expectancy is not affected. Last updated: 5/1/2011 This table lists symptoms that people with this disease may have.[rarediseases.info.nih.gov]
  • Finding SCA2 and 12 in this family would have implications for establishing the prognosis, genetic testing strategy, genetic screening, and genetic counselling.[movementdisorders.org]
  • Atypical features of FA • Reflexes may be preserved or hyperactive • Called FA with retained reflexes[FARR] • Kyphoscoliosis and heart disease less common and prognosis is better • Late onset FA [LOFA]. Onset beyond 25 years. 108.[slideshare.net]

Etiology

  • Etiology Like SCA8 the pathogenesis of SCA12 seems to be related to a toxic effect at the RNA level as it is caused by a CAG expansion at the 5' end of the PPP2R2B gene on chromosome 5q31-5q32. Prognosis Prognosis is essentially good.[orpha.net]
  • Beginning with an examination of the cerebellar region, and then progressing to a fresh perspective on the clinical aspects of the various forms of ataxia, this handbook gives clinicians a state-of-the-art reference for the management of the many etiologies[books.google.es]
  • Treatment A team of doctors has successfully performed world’s first surgery for tremors of different etiology with good success since surgery for SCA -12 tremors had never been attempted before in the world.[checkorphan.org]
  • Ristori et al examined 40 patients with ataxia of mixed etiology (eg, fragile X-associated tremor/ataxia syndrome, Friedreich’s ataxia, spinocerebellar ataxia, and multiple system atrophy).[mdedge.com]

Epidemiology

  • Summary Epidemiology Prevalence is unknown. Approximately 40 families have been reported. Clinical description The age of symptomatic onset ranges from 8 to 55 years with most patients presenting in the 4th decade.[orpha.net]
  • This Primer discusses the epidemiology of SCAs, the complex mechanisms underlying them and how they are diagnosed and managed in the clinic.[nature.com]
  • Relevant External Links for PPP2R2B Genetic Association Database (GAD) PPP2R2B Human Genome Epidemiology (HuGE) Navigator PPP2R2B Atlas of Genetics and Cytogenetics in Oncology and Haematology: PPP2R2B No data available for Genatlas for PPP2R2B Gene PPP2R2B[genecards.org]
  • Molecular epidemiology of spinocerebellar ataxias in Cuba: insights into SCA2 founder effect in Holguin. Neurosci Lett. 2009 Apr 24;454(2):157-60. doi: 10.1016/j.neulet.2009.03.015. Epub 2009 Mar 11.[ghr.nlm.nih.gov]
  • Sequeiros J: Machado- Joseph disease: epidemiology, genetics and genetic epidemiology; in Lechtenberg R (ed): Handbook of Cerebellar Diseases, Dekker, NY, 1993, pp. 345- 351. Nance MA, Myers RH.[bvs.sld.cu]
Sex distribution
Age distribution

Pathophysiology

  • "Cerebellar ataxia: Pathophysiology and rehabilitation". Clinical Rehabilitation. 25 (3): 195–216. doi : 10.1177/0269215510382495. PMID 21321055. "SCA2 information sheet from www.ataxia.org" (PDF). Archived from the original (PDF) on 2012-07-12.[en.wikipedia.org]
  • Kuo WL, Lapuk A, Neve RM, Qian Z, Ryder T, Chen F, Feiler H, Tokuyasu T, Kingsley C, Dairkee S, Meng Z, Chew K, Pinkel D, Jain A, Ljung BM, Esserman L, Albertson DG, Waldman FM, Gray JW: Genomic and transcriptional aberrations linked to breast cancer pathophysiologies[breast-cancer-research.biomedcentral.com]

Prevention

  • Prevention of secondary complications : A safe home environment. Other : Educate individuals and their families about natural history, treatment, mode of inheritance, genetic risks to other family members, and consumer-oriented resources.[ncbi.nlm.nih.gov]
  • For long term storage store at -20 deg C in small aliquots to prevent freeze-thaw cycles. Concentration: Approximately 0.5mg/ml. Actual concentration varies with each lot.[avivasysbio.com]
  • Can Spinocerebellar Ataxia be Prevented? Today’s medical technology is not adequately advanced to prevent SCA. However, technology is available to accurately identify the mutated gene in a patient with SCA.[medindia.net]
  • The last WD repeat of isoform 2 constitutes a mitochondrial stop-transfer domain that confers resistance to the unfolding step process required for import and therefore prevents PPP2R2B matrix translocation and signal sequence cleavage.[abcam.com]
  • Prevention of secondary complications : A safe home environment. Other : Educate individuals and their families about natural history, treatment, mode of inheritance , genetic risks to other family members, and consumer-oriented resources.[ncbi.nlm.nih.gov]

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