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]

She was living in Germany at the time, and presented to neurology there. [omicsonline.org]

Case 2 A female patient initially presented with cervical dystonia at the age of 43 years. [movementdisorders.org]

[…] as eef-2 A homolog of this gene for Saccharomyces cerevisiae is present as EFT1 PubMed References Associated with this GeneID Search PubMed Search Scirus Search Google Scholar EPD ORF Accession NM_001961 CDS Accession NP_001952 OMIM 130610 HPRD 00561 [genomics.senescence.info]

At the present time, it appears that these are two distinct diseases that are caused by different genes that just happen to be located very closely to one another in our genome. [ataxiacenter.umn.edu]

• Anemia

  Disease Type of connection Blackfan-Diamond anemia Familial pancreatic carcinoma Precursor B-cell acute lymphoblastic leukemia Precursor T-cell acute lymphoblastic leukemia Adrenocortical carcinoma B-cell chronic lymphocytic leukemia Essential thrombocythemia [csbg.cnb.csic.es]

  He is also investigating photolysis of non‐biological compounds such as 8‐methoxypsoralen+UVA, mitomycin C, and nitrogen mustard and their importance in psoriasis treatment and in Fanconi anemia. [books.google.com]

  Name OMIM RareDiseases Other Anemia, sideroblastic spinocerebellar ataxia; Pagon Bird Detter syndrome 301310 Disease ID 668 at NIH 's Office of Rare Diseases Friedreich's ataxia; Spinocerebellar ataxia, Friedreich 229300 Disease ID 6468 at NIH 's Office [en.wikipedia.org]

• Plethora

  Cdk2 is a cyclin-dependent kinase that phosphorylates a plethora of proteins to drive cell cycle events. Cdks are proline-directed serine/threonine (S/T) kinases, allowing Hizli et al. to hone in on the six S/T eEF2 residues neighbored by a proline. [fredhutch.org]

• High Pitched Voice

  He was rescued by an admiral, who was himself rather giddy. [23 p369] President Lincoln's Voice Although Lincoln had a high-pitched voice that would become shrill when he was excited, none of the dozen or so written descriptions of his voice mention anomalous [physical-lincoln.com]

• Nausea

  The drug was fairly well tolerated, with mild nausea being the most common side effect. [eurekalert.org]

  In acute (sudden) unilateral cases, the patient may experience vertigo, nausea, and vomiting. In slow-onset chronic bilateral cases, the patient may only experience unsteadiness. [medicalnewstoday.com]

  […] results suggested that episodic ataxia 2 and SCA6 are identical disorders with a high phenotypic variability, which is at least partly related to the number of repeats. [37] The work of Sinke et al. revealed that some patients with ataxia had episodic nausea [annalsofian.org]

• Vomiting

  In acute (sudden) unilateral cases, the patient may experience vertigo, nausea, and vomiting. In slow-onset chronic bilateral cases, the patient may only experience unsteadiness. [medicalnewstoday.com]

  Patients usually have headache, vomiting, neck stiffness or loss of consciousness. In children, bacterial or viral infections can cause acute ataxia and this usually improves with time. [bcm.edu]

  […] disorders) 19q SCA16 ( ITPR1 ) 39 yrs (20–66) 1–40 years Head and hand tremor 8q SCA17 ( TBP ) CAG repeat, 6q (TATA-binding protein) SCA19, SCA22 ( KCND3 [19] ) Mild cerebellar syndrome, dysarthria SCA25 1.5–39 yrs Unknown ataxia with sensory neuropathy, vomiting [en.wikipedia.org]

• Torticollis

  Rarely: SCA 2 Spastic ataxias Extrapyramidal Akinesia/rigidity/dystonia: SCA 3, 9, 17, 21 ; 12 (Akinesia) Chorea Early/prominent: DRPLA, 17, 27 ; Rarely SCA 2 Dyskinesia: SCA 27 Myoclonus Common: SCA 2, 14 Occasional: SCA 1, 3, 6, 7, 19 Dysphonia: SCA 20 Torticollis [neuromuscular.wustl.edu]

  FGF14 13q34 SCA35 40-48 years Unknown gait and limb ataxia, dysarthria, ocular dysmetria, intention tremor, pseudobulbar palsy, spasmodic torticollis, extensor plantar responses, reduced proprioception and hyperreflexia China transglutaminase 6 ( TGM6 [en.wikipedia.org]

• Fracture

  To limit the likelihood of fractures resulting from falls, bone density should be estimated and osteoporosis treated if present. [ncbi.nlm.nih.gov]

• Abnormal Eye Movement

  The common clinical problems in SCA are gait ataxia, eye movement abnormalities (nystagmus or jerkiness and double vision), and dysarthria (speech difficulty). [bcm.edu]

• Ataxia

  Abstract The dominantly inherited spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive gait ataxia, upper limb incoordination, and dysarthria. [ncbi.nlm.nih.gov]

  Autosomal dominant ataxias include the spinocerebellar ataxias and episodic ataxias. Spinocerebellar ataxias (SCA) represent the most common form of chronic progressive ataxia in adults. [bcm.edu]

  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]

  ataxias (SCAs) in a randomized, double-blind, placebo-controlled phase II trials.", keywords = "Allogeneic mesenchymal stem cells (MSCs), Clinical trials, Gait disorders/ataxia, Spinocerebellar ataxias (SCAs), Trinucleotide repeat diseases", author = [tmu.pure.elsevier.com]

• Cerebellar Ataxia

  We studied a six-generation kindred of Norwegian ancestry with pure cerebellar ataxia inherited in an autosomal dominant pattern. All affected family members had a slowly progressive cerebellar ataxia, with an age of onset range from 26 to 60 years. [ncbi.nlm.nih.gov]

  […] dominant cerebellar ataxia (ADCA type I; see this term). [malacards.org]

  […] allele size change in the CACNA1A gene, showing that a CAG20 allele was associated with the phenotype of episodic ataxia type 2, while a CAG(25) allele was linked to progressive cerebellar ataxia. [annalsofian.org]

  ataxias Early onset cerebellar ataxia usually emerges between the ages of 4 and 26. [medicalnewstoday.com]

  placebo-controlled, 2-way crossover phase III trial (ALCAT) Medical condition: Cerebellar ataxia is a form of ataxia originating in the cerebellum and is most often caused by neurodegenerative disorders of the cerebellum, either hereditary or sporadic [clinicaltrialsregister.eu]

• Dysarthria

  Cerebellar dysarthria and mildly ataxic gait occurred several years after dystonia manifested. [movementdisorders.org]

  Dysarthria, gait ataxia, bradykinesia, hyper-reflexia and dystonia were present in 80%, 80%, 60%, 50 % and 20% patients respectively. None of the patients showed cognitive impairment with mean MMSE score (26.10 ± 1.73). [mdsabstracts.org]

  Usually, the first symptom of the disease is the gait ataxia, followed by the cerebellar dysarthria. [synapse.koreamed.org]

  Abstract The dominantly inherited spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive gait ataxia, upper limb incoordination, and dysarthria. [ncbi.nlm.nih.gov]

  We experienced a 26-year-old man who presented with a 10-years history of slowly progressive gait ataxia, dysarthria and blepharospasm. We performed genetic studies for SCA1, 2, 3, 6, 7 and 8, and detected CTA/CTG repeat expansion in the SCA8 gene. [jkna.org]

• Nystagmus

  […] prominent in SCA 7 & DRPLA Ataxia Truncal: SCA 1 ; 2 ; 6 ; 14 ; 28 ; 31 ; 36 Tremor Head or Hand: SCA 8, 12, 15-16, 19, 27 Palatal: SCA 20 Normal lifespan: SCA 6, 11 Eye 60 Slow saccades Early/prominent: SCA 2, 7 Late: SCA 1, 3, 28 Very rarely: SCA 6 Nystagmus [neuromuscular.wustl.edu]

  Her mother, of Korean descent, died at 59 years of an unspecified pulmonary condition without known history of tremor, ataxia, or nystagmus. Her father, of Korean descent, is alive at 80 years of age without known tremor, ataxia, or nystagmus. [omicsonline.org]

  […] and a substantial number presented with rebound nystagmus. [annalsofian.org]

  Patients have ataxia along with spasticity, speech problems, nystagmus, weakness of lower extremities, and sensory problems. [bcm.edu]

  Other early signs and symptoms include speech difficulties (dysarthria), involuntary eye movements (nystagmus), and double vision. [diseaseinfosearch.org]

• Gait Ataxia

  gait ataxia) and eye movement abnormalities. [rarediseases.info.nih.gov]

  Abstract The dominantly inherited spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by progressive gait ataxia, upper limb incoordination, and dysarthria. [ncbi.nlm.nih.gov]

  Gait was assessed using Functional Gait Assessment (FGA). Dysarthria was assessed by a timed (10 sec.) speech task. [mdsabstracts.org]

  We experienced a 26-year-old man who presented with a 10-years history of slowly progressive gait ataxia, dysarthria and blepharospasm. We performed genetic studies for SCA1, 2, 3, 6, 7 and 8, and detected CTA/CTG repeat expansion in the SCA8 gene. [jkna.org]

  Affiliated tissues include skeletal muscle, and related phenotypes are muscle weakness and gait ataxia Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has material basis [malacards.org]

In selected patients with lower cranial dystonia, especially jaw and tongue dystonia, SCA2 might be considered during the diagnostic workup. [movementdisorders.org]

The Evidence for Pharmaceutical Treatment “One of the most robust treatments for spinocerebellar ataxias … is going to be 4-aminopyridine for episodic ataxia type II,” said Dr. Zesiewicz. [mdedge.com]

Upon study completion, all patients wished to continue treatment with the allogeneic MSCs. [tmu.pure.elsevier.com]

Management and treatment There is no cure for SCA26 and treatment is supportive. Neurological follow-up is recommended to monitor the progression of ataxia. Prognosis Disease progression is very slow, but precise prognosis is unknown. [orpha.net]

Lithium treatment Start treatment and remain in hospital until the blood level of the drug is stabilized; continue treatment at home after hospital discharge. Admission 2 (2-4 days, 4 weeks after hospital discharge). [clinicaltrials.gov]

These data suggest that the treatment effect is sustained in the those who continue to receive trehalose and was lost in those who were withdrawn from treatment. [globenewswire.com]

Prognosis Disease progression is very slow, but precise prognosis is unknown. [orpha.net]

The prognosis is bleak, with a gradual progression to disability and death within 10-20 years. Ref: Orr, H.T. et al. (1993). Expansion of an unstable CAG trinucleotide repeat in spinocerebellar ataxia type I. Nature Genet. 4, 221-26. [gpnotebook.co.uk]

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.com]

Etiology A candidate gene for SCA26 has recently been identified as the eukaryotic translation elongation factor 2 (EEF2) gene, located on chromosome 19p13.3. [orpha.net]

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]

Etiology A candidate gene for SCA26 has recently been identified as the eukaryotic translation elongation factor 2 ( EEF2 ) gene, located on chromosome 19p13.3. [rarediseases.info.nih.gov]

[…] intellectual disability - motor dysfunction - multiple joint contractures Total congenital cataract Synonym(s): - SCA26 Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

Summary Epidemiology To date, only 23 affected patients have been described from one American family of Norwegian descent. [orpha.net]

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]

Epidemiology To date, only 23 affected patients have been described from one American family of Norwegian descent. Clinical description Disease onset occurs between the ages of 26-60 with a mean age of onset of 42 years. [rarediseases.info.nih.gov]

An epidemiological study performed in the Netherlands found a prevalence of 3.0 : 100,000. The SCAs are genetically and clinically heterogeneous disorders with SCA1, SCA2, SCA3 and SCA6 being the most frequent genotypes worldwide. [ataxia-study-group.net]

[…] former President of the European Neurological Society and Special Medical Advisor to Bioblast commented, “Hereditary ataxias – of which SCA3 is one out of a group that includes more than six others – have various genetic defects with presumed different pathophysiologies [globenewswire.com]

Allen R: Dopamine and iron in the pathophysiology of restless legs syndrome (RLS). Sleep Med 2004;5:385–391. Krieger J, Schroeder C: Iron, brain and restless legs syndrome. Sleep Med Rev 2001;5:277–286. [karger.com]

"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]

We found that feeding SCA3-YAC-84Q transgenic mice with dantrolene, a clinically relevant stabilizer of intracellular Ca 2+ signaling, improved their motor performance and prevented neuronal cell loss in pontine nuclei and substantia nigra regions. [jneurosci.org]

The transient knockdown of eEF2K was achieved and this was shown to prevent eEF2 phosphorylation. However, CHO cells do not appear to tolerate the knockdown of eEF2K stably or at only very low levels. [kar.kent.ac.uk]

Further testing showed that even when deprived of thyroid hormone, negative changes in SCA6 Purkinje cells could be prevented using thyroid releasing hormone. [medicalxpress.com]

Prevention of secondary complications: Aids for walking and home modifications to help prevent falls; prevention/treatment of osteoporosis to reduce fracture risk. [ncbi.nlm.nih.gov]

Sordarin in turn might prevent domain III from moving away from the SRL, and thereby prevent the dissociation of eEF2 from the ribosome. The particular conformation of domain III of eEF2 has not yet been detected in the prokaryotic system. [emboj.embopress.org]