AB - We report a female patient of German descent with a molecular diagnosis of SCA13 who presented with a history of cerebellar ataxia and epilepsy. [utah.pure.elsevier.com]

We report a female patient of German descent with a molecular diagnosis of SCA13 who presented with a history of cerebellar ataxia and epilepsy. [ncbi.nlm.nih.gov]

Targeted expression of human KCNC3R423H in Drosophila triggers aberrant wing veins, maldeveloped eyes, and fused ommatidia consistent with the neurodevelopmental presentation of patients. [experts.umn.edu]

Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. [en.wikipedia.org]

• Epilepsy

  […] a history of cerebellar ataxia and epilepsy. [utah.pure.elsevier.com]

  This is the first case, which reports an association between mesial temporal lobe epilepsy and spinocerebellar ataxia type 13. This demonstrates that epilepsy of structural-metabolic cause may be contingent upon genetically defined channelopathies. [ncbi.nlm.nih.gov]

  Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. [experts.umn.edu]

  Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes. This cerebellar dysfunction is permanent and progressive. [en.wikipedia.org]

• Movement Disorder

  In addition, he established the Rush Movement Disorder Surgery Program and serves as its Medical Director. His clinical research interests include the development of new medical and surgical therapies for patients with advanced movement disorders. [books.google.de]

  Movement Disorders p. 154-173 June 2004, Vol.10, No.3 doi: 10.1212/01.CON.0000293568.17705.6a Article Article Related Links Abstract Cerebellar disorders have a variety of inherited and sporadic causes. [journals.lww.com]

  Further Reading van Gaalen J, Giunti P and van de Warrenburg BP (2011) Movement disorders in spinocerebellar ataxias. Movement disorders 26(5): 792–800. Manto M and Marmolino D (2009) Cerebellar ataxias. Current Opinion in Neurology 22(4): 419–429. [els.net]

  Movement Disorders, 33 (7) pp. 1119-1129. 10.1002/mds.27334. [discovery.ucl.ac.uk]

  MOVEMENT DISORDERS, 23 (15). pp. 2232-2238. [real.mtak.hu]

• Anemia

  X-linked sideroblastic anemia and ataxia: a new family with identification of a fourth ABCB7 gene mutation. Eu Maguire A et al. [genedx.com]

  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.de]

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

• Ataxia

  Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. [en.wikipedia.org]

  From Wikidata Jump to navigation Jump to search Human disease SPINOCEREBELLAR ATAXIA 13 Spinocerebellar Ataxia type 13 SCA13 SPINOCEREBELLAR ATAXIA 13; SCA13 edit English spinocerebellar ataxia type 13 Human disease SPINOCEREBELLAR ATAXIA 13 Spinocerebellar [wikidata.org]

  Differential Diagnosis Persons with spinocerebellar ataxia type 13 (SCA13) may present with ataxia that is indistinguishable from other adult-onset inherited or acquired ataxias (see Ataxia Overview ). [ncbi.nlm.nih.gov]

  We examined a large French family with autosomal dominant cerebellar ataxia (ADCA) that was excluded from all previously identified spinocerebellar ataxia genes and loci. [childnervoussystem.blogspot.com]

• Cerebellar Ataxia

  Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. [en.wikipedia.org]

  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. [experts.umn.edu]

  […] a history of cerebellar ataxia and epilepsy. [utah.pure.elsevier.com]

  We report a female patient of German descent with a molecular diagnosis of SCA13 who presented with a history of cerebellar ataxia and epilepsy. [ncbi.nlm.nih.gov]

• Dysarthria

  Signs and symptoms [ edit ] SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and nystagmus. [en.wikipedia.org]

  Disease heterogeneity is appreciated through varying comorbidities: dysarthria, dysphagia, oculomotor and/or retinal abnormalities, motor neuron pathology, epilepsy, cognitive impairment, autonomic dysfunction, and psychiatric manifestations. [experts.umn.edu]

  Signs and symptoms SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and nystagmus. [ipfs.io]

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

  Speech therapy and communication devices such as writing pads and computer-based devices may benefit those with dysarthria. [ncbi.nlm.nih.gov]

• Nystagmus

  Signs and symptoms [ edit ] SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and nystagmus. [en.wikipedia.org]

  Signs and symptoms SCA13 is typified by early onset, mildly progressive cerebellar ataxia with accompanying dysarthria, mental retardation, and nystagmus. [ipfs.io]

  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.com]

  Results: Clinical characterization of affected family members revealed cerebellar signs including gait ataxia, limb ataxia/dysmetria, titubation, hypotonia, dysarthria, and nystagmus. [lens.org]

  […] 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]

• Gait Ataxia

  CLINICAL CHARACTERISTICS: In the families described to date, the phenotype of spinocerebellar ataxia type 13 (SCA13) has ranged from slowly progressive childhood-onset cerebellar gait ataxia associated with cerebellar dysarthria and often accompanied [childnervoussystem.blogspot.com]

  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. [experts.umn.edu]

  Initial symptoms consist of gait ataxia, dysarthria, and dysphagia. Findings on examination include spastic and ataxic dysarthria, gaze-evoked nystagmus, limb and gait ataxia, limb spasticity, and diminished vibratory sensation. [ataxia.uchicago.edu]

  Agents/Circumstances to Avoid Alcohol and sedating drugs can exacerbate ataxia. Pregnancy Management Weight gain during pregnancy can further impair gait ataxia. [ncbi.nlm.nih.gov]

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

• Dyslipidemia

  Kompoliti’s include the gender differences in Parkinson’s disease and other movement disorders, studies to define the effect of neuroleptics on weight, risk for diabetes and dyslipidemia in patients with Tourette syndrome, and define the current status [books.google.de]

You can help by adding to it. ( October 2017 ) Treatment [ edit ] This section is empty. You can help by adding to it. ( October 2017 ) Prognosis [ edit ] There is no known prevention of spinocerebellar ataxia. [en.wikipedia.org]

Only supportive treatment is available. [emedicine.com]

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

Treatment of acute hyperkalaemia in adults [PDF] This guideline has been developed to improve the treatment of acute hyperkalaemia and reduce the risk of complications associated with hyperkalaemia and its treatment. This guideline is a... [evidence.nhs.uk]

In this study, we present the results of a detailed neurological clinical and diagnostic testing on 21 mutation-positive members of a four-generation Filipino family to further define this disease, aiding diagnosis and prognosis. [ncbi.nlm.nih.gov]

You can help by adding to it. ( October 2017 ) Prognosis [ edit ] There is no known prevention of spinocerebellar ataxia. [en.wikipedia.org]

Diagnosis and Prognosis: Neurologists and ophthalmologists working together usually can make this diagnosis, especially if there is a family history. [disorders.eyes.arizona.edu]

This results in neurons with longer after-hyperpolarizations and thus, a decreased maximal firing rate. [3] Prognosis There is no known prevention of spinocerebellar ataxia. [ipfs.io]

Prognosis Prognosis is poor but patients have been reported to survive for decades after onset of symptoms. [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.de]

Abstract The autosomal dominant spinocerebellar ataxias (SCAs) represent a growing and heterogeneous clinical phenotype with ongoing discovery of causative etiologies. [lens.org]

Thus, it seems unlikely that expansion alone causes SCA8; other genetic mechanisms may be necessary to explain SCA8 etiology. [discovery.ucl.ac.uk]

Identification of KCNC3 mutations contributes a new class of genes to causative etiologies of progressive degenerative ataxias. [ashg.org]

Summary Epidemiology Prevalence is estimated to be 1-2 in 100,000 with significant geographical and ethnic variations: the highest prevalence has been found in the Azores (Flores Island (1/239)), intermediate prevalence rates in Portugal, Germany, the [orpha.net]

Silveira Epidemiology and population genetics of degenerative ataxias [19] T. Matsuura, L.P. Ranum, V. Volpini, M. Pandolfo, H. Sasaki, K. [elsevier.es]

Epidemiology [ edit ] The prevalence of SCA6 varies by culture. [en.wikipedia.org]

The Global Epidemiology of Hereditary Ataxiaand Spastic Paraplegia: A systematic review of prevalence studies. Neuroepidemiology 2014; 24:174-183. Ashizawa T, Figueroa KP, Perlman SL, et al. [rarediseases.org]

616204 616291 616354 616719 607250 616948 616949 617133 文献 PMID: 19440741 著者 Anheim M, Fleury M, Monga B, Laugel V, Chaigne D, Rodier G, Ginglinger E, Boulay C, Courtois S, Drouot N, Fritsch M, Delaunoy JP, Stoppa-Lyonnet D, Tranchant C, Koenig M タイトル Epidemiological [genome.jp]

Symptoms and age of onset can vary slightly according to the causative mutation. [1] [2] Pathophysiology [ edit ] Mutations in KCNC3 are responsible for SCA13. [en.wikipedia.org]

Symptoms and age of onset can vary slightly according to the causative mutation. [1] [2] Pathophysiology Mutations in KCNC3 are responsible for SCA13. [ipfs.io]

Advances in genetics have led to the successful classification of over 20 forms of autosomal dominant and recessive cerebellar ataxias with variable phenotypes and have shed light on the underlying pathophysiology of many of these disorders. [journals.lww.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]

Prevention of secondary complications : Weight control. Surveillance: Evaluation by a neurologist at least annually, and more often in the event of acute exacerbation. [ncbi.nlm.nih.gov]

You can help by adding to it. ( October 2017 ) Prognosis [ edit ] There is no known prevention of spinocerebellar ataxia. [en.wikipedia.org]

Prevention of secondary complications: Weight control. Surveillance: Evaluation by a neurologist at least annually, and more often in the event of acute exacerbation. [childnervoussystem.blogspot.com]