Clinical description SCA4 typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. [orpha.net]

In the present study, the first available cerebellar and brainstem tissue of a clinically diagnosed and genetically-confirmed German SCA4 patient was pathoanatomically studied using serial thick sections. [ncbi.nlm.nih.gov]

R....Bhomaj S. 2016 3 Meningoencephalitis, myositis, and rash-neurological presentation of Indian tick typhus. ( 27365979 ) Nigam G....Sobhana C. 2016 4 Indian tick typhus presenting with gangrene: a case report from an urban slum of delhi. ( 23783766 [malacards.org]

The clinical presentation of these 6 cases was variable. [annalsofian.org]

Clinically, our SCA11 patients had phenotypic characteristics as described before presenting with slowly progressive almost pure cerebellar ataxia with normal life expectancy. [hal.archives-ouvertes.fr]

• Epilepsy

  Epilepsy, familial temporal lobe, 1 : Leucine-rich, glioma inactivated 1 gene ( LGI1 ); Autosomal dominant nocturnal frontal lobe epilepsy – ADFNLE : Cholinergic receptor, nicotinic, alpha 4 ( CHR- NA4 ) and Cholinergic receptor, nicotinic, beta 2 [isn.cnr.it]

  Cognitive disability is more common in SCA10 with epilepsy than in that without epilepsy [ 13, 35, 36 ]. [journals.plos.org]

  SCA 10 represents a rare form of SCA, until now, only described in Latin America, particularly in Mexico, characterized by the association of cerebellar ataxia and epilepsy; and Brazil, where the phenotype is that of a pure cerebellar ataxia. [academic.oup.com]

  Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy. Ann Neurol 1999;45:407-411. 41. Matsuura T, Yamagata T, Burgess DL, et al. [demneuropsy.com.br]

  Electroencephalography may show features of epilepsy. Electromyography may demonstrate continuous motor unit activity. Genetic testing may be possible. All these diseases represent an abnormality of metabolism due to a defect on a chromosome. [patient.info]

• Pain

  Studies reveal that cannabinoids are effective against both neuropathic and nociceptive pain, and have shown to help manage pain that had previously proven refractory to other treatments (Wallace, et al., 2015). [medicalmarijuanainc.com]

  I get hand, knee, leg, neck pain etc and feeling like my head weighs a ton. [healthunlocked.com]

  SCA2 is characterized by slowly progressive ataxia sometimes with leg stiffness and/or painful leg muscle cramps at night. Mild dementia has been reported, which appears to be predominantly an impairment of executive functions. [ataxia.uchicago.edu]

  […] wheelchair after around 10 to 20 years difficulty swallowing (dysphagia) abnormal curvature of the spine (scoliosis) total or partial vision loss and hearing loss diabetes thickening of the heart muscles (hypertrophic cardiomyopathy), which can cause chest pain [nhs.uk]

  Antispasmodic and/or anticonvulsive medications, and analgesics for some painful neuropathies, may control and relieve the respective symptoms in some ataxia subtypes. [encyclopedia.com]

• Failure to Thrive

  A form of infantile-onset SCA2 has been recognized associated with extreme expansions of SCA2 alleles, in which children have infantile spasms, severe hypotonia, pigmentary retinopathy, dysphagia, failure to thrive, and usually die before 2 years of age [ataxia.uchicago.edu]

  […] to gain weight, and failure to thrive. [chginc.org]

  Clinical features Stage of ataxia; mental deficiency during infantile and childhood stage Delayed development, failure to thrive, hypotonia, and multisystem organ failure Dysmorphic facial features, including prominent ears and nose Fat pads over buttocks [emedicine.medscape.com]

• Muscular Atrophy

  He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. Dr. H. [books.google.es]

  Spinal muscular atrophy is a genetic disease, a muscular dystrophy that in most cases affects children, but not in my case. [thegadabouttown.com]

  atrophy and related syndromes G12.0 Infantile spinal muscular atrophy, type I [Werdnig-Hoffman] G12.1 Other inherited spinal muscular atrophy G12.2 Motor neuron disease G12.21 Amyotrophic lateral sclerosis G12.22 Progressive bulbar palsy G12.23 Primary [icd10data.com]

  Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. [hon.ch]

• Muscle Spasticity

  Medical cannabis has been shown to significantly improve muscle spasticity, both in mice and clinical trials (Borgelt, Franson, Nussbaum & Wang, 2013) (Baker, et al., 2000). [medicalmarijuanainc.com]

  Common features of XLAG include muscle spasticity, hypotonia, epilepsy, abnormal genitalia, developmental delay, and severe intellectual disability. [chginc.org]

• Aggressive Behavior

  Whereas overt progressive dementia is not observed, some individuals with SCA10 exhibit mild cognitive dysfunction (IQ~70) and suffer from mood disorders, including depression and aggressive behavior [ 9 ]. [journals.plos.org]

  Clinical features Early onset tremor, ataxia in the second decade, and orofacial dyskinesias Aggressive behavioral outbursts Spinocerebellar ataxia 28 See the list below: Clinical features Age of onset - 6-60 years (mean 30.7 y) Slowly progressive Standing [emedicine.medscape.com]

• Psychiatric Symptoms

  Children tend to present with liver disease as their primary symptom, whereas most neurological and psychiatric symptoms tend to arise in adulthood. [chginc.org]

• Ataxia

  Ataxia-5 — Spinocerebellar Ataxia Type 6 — Type 6 Spinocerebellar Ataxia — Spinocerebellar Ataxia 6 — Ataxia 6, Spinocerebellar — Ataxia 6s, Spinocerebellar — Spinocerebellar Ataxia 6s — Spinocerebellar Ataxia-6 — Spinocerebellar Ataxia Type 1 — Type [mesh.kib.ki.se]

  Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 2000; 95:351. [verywell.com]

  ataxia type 4 autosomal dominant (PLEKHG4) TEST DETAILS Cost of Spinocerebellar ataxia type 4 autosomal dominant (PLEKHG4) Test in India [dnalabsindia.com]

  Research of Spinocerebellar Ataxia Type 4 has been linked to Ataxia, Ataxia, Spinocerebellar, Cerebellar Ataxia, Cerebellar Diseases, Neurodegenerative Disorders. [novusbio.com]

• Cerebellar Ataxia

  Disease definition Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy. [orpha.net]

  Abstract Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant disorder mapped to chromosome 16q22.1 in a large Utah kindred. The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. [ncbi.nlm.nih.gov]

  Additionally, 16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is one of the most common autosomal dominant cerebellar ataxia in Japan, particularly in Nagano, where it accounts for ∼42% of autosomal dominant cerebellar ataxia families. [academic.oup.com]

  cerebellar ataxia G11.2 Late-onset cerebellar ataxia G11.3 Cerebellar ataxia with defective DNA repair G11.4 Hereditary spastic paraplegia G11.8 Other hereditary ataxias G11.9 Hereditary ataxia, unspecified G12 Spinal muscular atrophy and related syndromes [icd10data.com]

• Dysarthria

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

  A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

  Signs and symptoms of Friedreich's ataxia can include: problems with balance and co-ordination, often causing wobbliness, clumsiness and frequent falls increasingly slurred, slow and unclear speech (dysarthria) increasing weakness in the legs – many people [nhs.uk]

  They are characterised generally by a slow progression of ataxia of gait, stance and limbs and by dysarthria with or without oculomotor dysfunction due to cerebellar degeneration. [patient.info]

  In view of the known functional role of affected nuclei and related fiber tracts, the present findings not only offer explanations for the well-known disease symptoms of SCA4 patients (i.e. ataxic symptoms, dysarthria and somatosensory deficits), but [ncbi.nlm.nih.gov]

• Tremor

  Interestingly enough, dystonia in SCA2 may, at least transiently, respond to l-dopa. [10] Although 1 of our patients developed rest tremor (case 1) and parkinsonism was described in SCA 2 patients, [1] we believe that this tremor was probably the result [movementdisorders.org]

  Tremor in SCA-12 might respond to medications used for essential tremor. SCA12 is caused by a repeat expansion. If both genes have 4-32 repeats, then the individual does not have SCA12. [ataxiacenter.umn.edu]

  A slowly progressive cerebellar syndrome with various combinations of oculomotor disorders, dysarthria, dysmetria/kinetic tremor, and ataxic gait are key presenting features. [emedicine.medscape.com]

  Medications or other therapies might be appropriate for some of these symptoms, which could include tremor, stiffness, depression, spasticity, and sleep disorders, among others. Both onset of initial symptoms and duration of disease are variable. [en.wikipedia.org]

  Recent Studies on Cannabis’ Effect on Spinocerebellar Ataxia Smoking cannabis significantly reduced tremors, rigidity and bradykinesia. [medicalmarijuanainc.com]

• Nystagmus

  Also observed were moderate incidences of horizontal eye dysmetria, rebound nystagmus, vertical positional nystagmus and visual suppression. [tinnitusjournal.com]

  On examination, she had slight horizontal gaze evoked nystagmus, prominent downbeat positional nystagmus, and mildly impaired tandem walking. [jnnp.bmj.com]

  Spinocerebellar ataxia 1 See the list below: Clinical features Onset in the fourth decade of life Gait ataxia, dysarthria, dysmetria, nystagmus, peripheral neuropathy, muscle wasting, and dystonia in late stages of the disease Gain of function mutation [emedicine.medscape.com]

  […] related fiber tracts, the present findings not only offer explanations for the well-known disease symptoms of SCA4 patients (i.e. ataxic symptoms, dysarthria and somatosensory deficits), but for the first time help to explain why diplopia, gaze-evoked nystagmus [ncbi.nlm.nih.gov]

  Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). [hon.ch]

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

Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene. [chginc.org]

Seventeen states have approved medical marijuana for the treatment of spasms, which are commonly associated with spinocerebellar ataxia. [medicalmarijuanainc.com]

[…] of Spinocerebellar Ataxia Medical research yet now unable to discover the curative treatment for spinocerebellar ataxia, even the available treatment is not able to control the disease progression. [healthsaline.com]

& Business Media, 11 mar. 2010 - 304 páginas This reference on the state-of-the-art of neuromuscular diseases as a whole offers a current review of inherited neuromuscular diseases under different approaches: genetics, pathomechanisms, therapies and treatments [books.google.es]

Although there is no cure, treatment options may include physical therapy, assistive devices, and medications depending on the type and severity of symptoms present. [rarediseases.info.nih.gov]

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 There is insufficient clinical data to draw conclusions concerning prognosis. [orpha.net]

Prognosis Prognosis is highly variable between the different types but improvement is unlikely. [patient.info]

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]

Prognosis The prognosis for a person with ataxia depends upon the type and nature of the disease. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. [encyclopedia.com]

Prognosis Spinocerebellar ataxias due to repeat expansion mutations usually become sick in middle age. In addition to ataxia, other neurological findings are often present depending on the variant of SCA. [verywell.com]

Etiology The disease has been linked to chromosome 16q22.1 in kindreds from Utah (USA) and Germany but the mutation is yet unknown and does not appear to involve trinucleotide repeats. [orpha.net]

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Request Information [igenomix.es]

Its etiology is mostly caused by mutations characterized by the presence of an expansive and unstable CAG trinucleotide repeat in the coding region of the tested gene. [tinnitusjournal.com]

Moreover, increased intracellular Ca 2+, which promotes transglutaminase activation, is of vital importance in the etiology of neurologic diseases. [emedicine.medscape.com]

Summary Epidemiology Prevalence is unknown. Clinical description SCA4 typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. [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 Prevalence of ADCAs has been estimated as between 0.3 to 2 per 100,000 [ 7 ]. [patient.info]

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]

Spinocerebellar degenerations in Japan: new insights from an epidemiological study. Neuroepidemiol. 2009;32:184-5. Teive HA, Munhoz RP, Raskin S,Arruda WO, de Paola L, Werneck LC, et al. [tinnitusjournal.com]

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology Stoyas CA, La Spada AR Handbook of clinical neurology, 2018, 147, p 143 Cajal bodies in neurons Lafarga M, Tapia O, Romero AM, et al. [myobase.org]

Anatomically based guidelines for systematic investigation of the central somatosensory system and their application to a spinocerebellar ataxia type 2 (SCA2) patient Neuropathol Appl Neurobiol 29 418 433 CrossRef Google Scholar Said, G, Thomas, PK 1992 Pathophysiology [link.springer.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]

This helps avoid repeated freeze-thaw cycles, as well as prevent loss of virus. To maintain accurate titer, aliquot in at least 20ul per tube. [vectorbiolabs.com]

Involved in degradation of misfolded chaperone substrates via its interaction with STUB1/CHIP- recruited to monoubiquitinated STUB1/CHIP, and restricts the length of ubiquitin chain attached to STUB1/CHIP substrates and preventing further chain extension [string-db.org]

Protein coding - E0CYM2 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 5, for transcripts that are not supported at all by either an mRNA or an EST. [ensembl.org]