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]

• Weakness

  Eye muscle weakness leads to a decreased ability to make rapid eye movements (saccadic slowing). [ghr.nlm.nih.gov]

  Spinocerebellar ataxia type 1 is an autosomal dominant neurodegenerative disease which is characterised by: ataxia ophthalmoplegia variable degrees of motor weakness The onset of symptoms occurs in the third or fourth decades. [gpnotebook.co.uk]

  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]

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

  Spinocerebellar Ataxia Type 3 (SCA3) SCA3, also known as Machado-Joseph disease, is the most common form of hereditary cerebellar ataxias and characterized by ataxia, spasticity, difficulty with speech and swallowing, weakness in arms and memory deficits [raredr.com]

• Camping

  A variety of treatments known to raise intracellular Ca2+ or cAMP levels have been shown to result in increased phosphorylation of eEF2, and thus to inhibit peptide-chain elongation. [mybiosource.com]

  Oncogene 2012, 31: 2350–2361. 10.1038/onc.2011.414 PubMed View Article Google Scholar Camps M, Ruckle T, Ji H, Ardissone V, Rintelen F, Shaw J, Ferrandi C, Chabert C, Gillieron C, Francon B, et al .: Blockade of PI3Kgamma suppresses joint inflammation [proteomesci.biomedcentral.com]

• Pain

  Famously, he signed the Emancipation Proclamation after an hours-long handshaking session, and took pains to keep his signature steady. [12 p407] Weeks later, in February 1863, his hand trembled in writing a note, but this was probably part of a larger [physical-lincoln.com]

  […] 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 and gastrointestinal pain [en.wikipedia.org]

• Fever

  They develop fever, problems with walking and slurred speech over a period of hours to days and recover over weeks. Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration. [bcm.edu]

• Fatigue

  It has side effects such as sedation, fatigue or loss of libido among others. Other medications such as buspirone or 5-hydroxytryptophan have been studied but they have not been shown to be very beneficial. [bcm.edu]

• Pertussis

  Biotin - or digoxigenin-conjugated NAD has been used successfully to label EF-2 by diphtheria toxin, an alpha subunit of G protein by pertussis toxin, and poly(ADP-ribose) synthase through auto-poly(ADP-ribosyl)ation (J. [wikigenes.org]

• 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]

• Withdrawn

  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]

• 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]