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Autosomal Recessive Spinocerebellar Ataxia 18

Autosomal Recessive Congenital Cerebellar Ataxia due to Ionotropic Glutamate Receptor Delta-2 Subunit Deficiency


Presentation

  • Kerber's current research focus is using health services research approaches to optimize patient care and health care utilization for dizziness presentations.[books.google.de]
  • Acronym SCAR18 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • He presented gaze-evoked nystagmus in all directions. His Mini-Mental State Examination score was 30.[synapse.koreamed.org]
  • Of the different hereditary ataxias present in Cuba, spinocerebellar ataxia type 2 (SCA2) is the most prevalent molecular type.[scinapse.io]
  • Ataxia, both truncal and cerebellar, is present. Mobility is impaired from early childhood and eventually requires assistance. Joint contractures sometimes develop and patients can be wheelchair-bound by the second decade.[disorders.eyes.arizona.edu]
Disability
  • SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability.[malacards.org]
  • (PMID: 25148684) Mas C … Collins BM (The Journal of biological chemistry 2014) 3 4 60 Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.[genecards.org]
  • The age of onset and rate of disability progression for the more common SCAs vary according to individual differences in the length of the causative CAG trinucleotide repeat.[es.slideshare.net]
  • Our primary focus is on genetic mutations causing ataxias but also includes other conditions such as learning disability, dystonia and other movement disorders, epilepsy and spasticity.[ndcn.ox.ac.uk]
Developmental Delay
  • Systemic Features: Patients are developmentally delayed and have intellectual disability. These features do not seem to be progressive. Ataxia, both truncal and cerebellar, is present.[disorders.eyes.arizona.edu]
  • In addition to ataxia, individuals with SCA27 may have developmental delays or mental retardation. Testing for SCA27 is not yet available in the United States. SCA28 SCA28 was first described in an Italian family, and later in a German family.[ataxiacenter.umn.edu]
  • Screening for OPHN1 mutations in a large cohort of boys with cognitive impairment and vermis hypoplasia led to identification of mutations of this gene in 12%. 42 Patients with Opitz/BBB syndrome are also characterized by developmental delay, ataxia,[ajnr.org]
Constipation
  • […] found but may be more prominent amongst cases involving SACS gene deletions. 9, 21, 24 Bladder and bowel symptoms are not well-studied in ARSACS although urinary urge incontinence has been most commonly described. 2,6,18,21,23 Faecal incontinence and constipation[acnr.co.uk]
Muscle Weakness
  • 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]
  • Vitamin B12 deficiency causes sensory ataxia in addition to muscle weakness. Treatment Of all the movement disorders, ataxia is among the most resistant to medical therapy. Clonazepam may help tremor and balance problems.[bcm.edu]
  • Muscle cramps, muscle weakness, easy fatigability. Myoglobinuria with strenuous exercise.[kumc.edu]
Abnormal Eye Movement
  • Abnormal eye movement or head thrust is recognized as an initial symptom in fewer than 10% of cases.[synapse.koreamed.org]
  • Other clinical manifestations that might help with diagnosis and management Abnormal eye movements, e.g., slow saccades, various forms of nystagmus, can be helpful.[clinicaladvisor.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]
  • In this context, it is typically accompanied by abnormal eye movements, nystagmus, dysarthria, dysmetria, or dysdiadochokinesia.[ajnr.org]
Onset in Infancy or Childhood
  • Marinesco-Sjögren syndrome: Marinesco-Sjögren syndrome is a rare disorder with onset in infancy or childhood. Homozygosity mapping in two large consanguineous families of Turkish and Norwegian origin mapped the disease gene on chromosome 5q31[ 45 ].[wjgnet.com]
Dysmetria
  • Neurological examination revealed bilateral plantar extensor responses, abolished Achilles reflexes, and finger to nose dysmetria.[karger.com]
  • Cardinal features - Cerebellar pathology – Stance and gait – Poor regulation and coordination of skilled movements (Dysmetria and dysdiadokinesia) – Eye movement disturbances – Altered Muscle tone (Hypotonia) – Speech (Dysarthria) 6.[slideshare.net]
  • However, his vibration and positional senses were decreased in the lower limbs, his deep tendon reflexes were hyporeflexic in all the limbs, Babinski signs were absent bilaterally, and he had bilateral upper and lower limb dysmetria and truncal ataxia[synapse.koreamed.org]
  • Neurological examination showed bilateral horizontal gaze-evoked nystagmus, ocular dysmetria and dysarthria; severe gait ataxia associated with less prominent truncal and appendicular ataxia.[scielo.br]
  • Dyssynergia (impaired synergistic movements of agonists and antagonists), dysmetria (difficulty in judging distance of the target) and dysdiadochokinesis are cerebellar abnormalities of movement.[jpgmonline.com]
Poor Coordination
  • Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord.[uniprot.org]
  • The hereditary ataxias are a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. Frequently, atrophy of the cerebellum occurs.[flybase.org]
  • SCA8 SCA-8 is a slowly progressive ataxia resulting in poor coordination of limbs, especially lower extremities, and poor coordination of gait and speech.[ataxiacenter.umn.edu]
  • Symptoms Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.[wikidoc.org]
Cerebellar Disease
  • Hereditary cerebellar disease Hereditary cerebellar syndrome spinal G11.1 (Friedreich's) spinal hereditary G11.1 (Friedreich's) Friedreich's G11.1 (heredofamilial) (cerebellar) (spinal) Hunt's G11.1 spinocerebellar, X-linked recessive G11.1 Cardiomyopathy[icd10data.com]
  • "Cerebellar Ataxia Rehabilitation Trial in Degenerative Cerebellar Diseases". Neurorehabilitation and Neural Repair. 26 (5): 515–22. doi : 10.1177/1545968311425918. PMID 22140200. Further reading [ edit ] Bird, Thomas D (23 January 2014).[en.wikipedia.org]
  • Key-words: cerebellar ataxia, cerebellar diseases, trinucleotides, genetics. Texto completo disponível apenas em PDF. Full text available only in PDF format. Agradecimentos - Os autores agradecem o inestimável apoio secretarial de Marina Ribeiro.[scielo.br]
  • Forty-one patients with degenerative cerebellar disease and iCA with pure cerebellar dysfunction received 2 hours of PT and 1 hour of occupational therapy daily for 4 weeks. Patients were assessed at 0, 4, 12, and 24 weeks after treatment.[movementdisorders.org]
  • On the clinical symptoms of cerebellar disease. Croonian lectures. Lancet, I (1922), pp. 1177-1182 1231–7; II:59–65; 111–5 [4] J.G. Greenfield. The spinocerebellar degenerations. [5] J. Berciano. Olivopontocerebellar atrophy: a review of 117 cases.[elsevier.es]
Vertigo
  • Diamox, 4 aminopyridinesame gene as SCA -6 but nature of mutation differs EA type3 Episodic vestibulo-cerebellar ataxia, Defective smooth pursuit, gaze evoked nystagmus, vertigo EA type4 Vestibular ataxia, vertigo, tinnitis, interictal myokymia - Diamox[slideshare.net]
  • PICA infarct that spares the medulla presents with limb and gait ataxia with acute-onset vertigo, nausea and vomiting. SCA infarct presents with acute-onset gait, ipsilateral limb ataxia, dysarthria with nausea and vomiting.[jpgmonline.com]
  • […] decade (19-72) Decades areflexia (absence of neurologic reflexes ) Chromosome 16q SCA5 ( SPTBN2 ) 3rd - 4th decade (10-68) 25 years Pure cerebellar Chromosome 11 SCA6 [6] ( CACNA1A ) 5th - 6th decade (19-71) 25 years Downbeating nystagmus, positional vertigo[wikidoc.org]
  • Symptoms were slowly progressive and associated with disequilibrium and slurred speech without vertigo. She denied paroxysmal symptoms or migraine. Her father, aged 75 years, lives in Japan and has the same problems starting at the age of 43.[scielo.br]
  • 7th decade (19–72) Decades areflexia (absence of neurologic reflexes ) Chromosome 16q SCA5 ( SPTBN2 ) 3rd–4th decade (10–68) 25 years Pure cerebellar Chromosome 11 SCA6 [12] ( CACNA1A ) 5th–6th decade (19–71) 25 years Downbeating nystagmus, positional vertigo[en.wikipedia.org]
Truncal Ataxia
  • However, his vibration and positional senses were decreased in the lower limbs, his deep tendon reflexes were hyporeflexic in all the limbs, Babinski signs were absent bilaterally, and he had bilateral upper and lower limb dysmetria and truncal ataxia[synapse.koreamed.org]
  • On neurological examination, the child had moderate truncal ataxia, dysarthria but no tremor and pyramidal signs in the lower limbs.[ojrd.biomedcentral.com]
  • Though truncal ataxia and gait speed on SARA were sustained at 12 weeks, there was no continued decrease in the number of falls. At 24 weeks, overall improvement attenuated.[movementdisorders.org]
  • ataxia, dysarthria, variable motor neuron disease, and sensorineural hearing loss NOP56 GGCCTG repeat SCA37 Late onset, falls, dysarthria, clumsiness, abnormal vertical eye movements 1p32 SCA38 Adult onset, axonal neuropathy ELOVL5 SCA40 Adult onset,[e-jmd.org]

Treatment

  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • To identify relevant publications, a PubMed search using the terms “treatments of cerebellar ataxias,” “degenerative cerebellar ataxia treatment,” and “treatment of hereditary cerebellar ataxia” was conducted.[movementdisorders.org]
  • Treatment Treatment Options: No treatment has been reported. However, physical therapy, assistive devices for mobility, and low vision aids may be helpful.[disorders.eyes.arizona.edu]
  • What complications might you expect from the disease or treatment of the disease? The autosomal dominant SCAs are gradually progressive. There are no disease modifying treatments.[clinicaladvisor.com]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]

Prognosis

  • (See 'Prognosis' above and 'Treatment' above.) SCA3, also known as Machado-Joseph disease, is the most common type of SCA (table 1). SCA types 9 through 36 are rare and less well characterized.[es.slideshare.net]
  • Disease progression and severity often depend on the type of SCA. [1] Most available information on the prognosis of SCA is based on the four most common types: SCA1, SCA2, SCA3 and SCA6.[rarediseases.info.nih.gov]
  • Treatment and prognosis There is no known cure for spinocerebellar ataxia, which is a progressive disease (it gets worse with time), although not all types cause equally severe disability.[wikidoc.org]
  • Distinguishing genetically heritable syndromes from isolated cases of vermian/cerebellar hypoplasia is important for both prognosis and genetic counseling.[ajnr.org]

Etiology

  • CCA was defined as an SCA of unknown etiology with imaging evidence of isolated cerebellar atrophy.[movementdisorders.org]
  • Through the past 15 years, significant progress has been made in improving our understanding of the genetic etiology of the ARCA.[wjgnet.com]
  • Etiology • Degenerative – MSA, Progressive myoclonic epilepsy • Stroke – cerebellar, thalamic, brainstem, pontomedullary junction, lesions causing ataxic hemiparesis • Tumors- Medulloblastoma, Astrocytoma, Ependymoma, Hemangioblastoma, Metastasis, Meningioma[slideshare.net]
  • Hereditary cerebellar ataxias are a clinically, pathologically, and etiologically heterogeneous group of disorders [ 1, 2 ].[e-jmd.org]

Epidemiology

  • Consequently, they are often approached together in epidemiological studies.[karger.com]
  • Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidenceof a SCA7 founder effect.Clin Genet 2013. John Wiley & Sons A/S.[scinapse.io]
  • Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea.[e-jmd.org]
  • Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics 2010;11:1–12. 7.[synapse.koreamed.org]
  • There is a growing interest in the role of RNA in neurodegenerative diseases. 17 Epidemiology Prevalence of SCA varies considerably from country to country.[elsevier.es]
Sex distribution
Age distribution

Pathophysiology

  • The pathophysiology of SCA depends on the function of the responsible gene. In some cases, the function of the gene and the pathway whereby cerebellum is damaged has not been discovered.[clinicaladvisor.com]
  • […] and body sway during the 2-week titration period as well as the 8-week reassessment. [31] Insulin-Like Growth Factor Insulin-like growth factor-1 (IGF-1) acts as a neuromodulator in the CNS. [32] Disturbances in CNS signaling pathways may produce the pathophysiological[movementdisorders.org]
  • In this review, we summarise the clinical, genetic and pathophysiological features of this condition, and the investigations used in its diagnosis.[acnr.co.uk]
  • "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]
  • Koenig[ 10 ] proposed a classification of ARCA based on topographical and pathophysiological criteria, while in the next year the group of Filla proposed a pathogenic classification of the hereditary ataxias[ 11 ].[wjgnet.com]

Prevention

  • How can spinocerebellar ataxia be prevented? There are no disease-modifying therapies, including none that prevent or postpone symptom onset in individuals carrying the mutated genes.[clinicaladvisor.com]
  • Skin care and eventual placement of PEG tube (feeding tube) in patients with swallowing difficulties will help prevent lung infections. For more information, see Appendix - Classification of Spinocerebellar Ataxias.[bcm.edu]
  • Advances in genetic research in the last decades have improved their diagnosis and brought new possibilities for prevention and future treatments. Still, there is great uncertainty regarding their global epidemiology.[karger.com]
  • Some can be suggested or diagnosed by imaging; others can be prevented by genetic counseling or treated if detected in early stages.[ajnr.org]
  • […] craniovertebral junction anomalies, posterior fossa tumors,hydrocephalus, paraneoplastic cerebellar degeneration are fully or partially reversible after appropriate therapy is initiated early. [37], [38] The general goal in degenerative ataxias is to prevent[jpgmonline.com]

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