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]

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

However, these ophthalmoscopic abnormalities are not usually present until late in the course of the disease. [journals.lww.com]

46-year-old male presenting with progressive esotropia February 16, 2010 History of Present Illness: A 46-year-old male, presented for follow up of a long-standing progressive esotropia (ET). [webeye.ophth.uiowa.edu]

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]

• Progressive Ophthalmoplegia

  Slowing of saccades is an early sign, suggesting involvement of the brainstem reticular formation (10,14), and is later followed by progressive ophthalmoplegia. [journals.lww.com]

• Peripheral Neuropathy

  Both SCA3 and SCA4 are also associated with a peripheral neuropathy and should be taken into account in the differential diagnosis.PrognosisPrognosis is unclear. [malacards.org]

  Neuropathy, ataxia, retinitis pigmentosa, and peripheral neuropathy syndrome (maternal inheritance) Gene, inheritance, and pathogenesis: Neuropathy, ataxia, retinitis pigmentosa, and peripheral neuropathy (NARP) syndrome is a mitochondrial disorder that [emedicine.medscape.com]

  neuropathy 3, 4, 18, 25 1 Cortical disorders Dementia 17, DRPLA 2, 13, 19, 21 Psychosis DRPLA, 17 3, 27 (Episodic) Epilepsy 10, DRPLA 17 Movement disorders Chorea DRPLA, 17 1 (Late stage) Myoclonus DRPLA 2, 19 Tremor 2, 8, 12 15, 21, 27 Parkinsonism [neuromuscular.wustl.edu]

  Discussion: Our results reveal the existence of a critical sensorimotor peripheral neuropathy in SCA7 patients. [karger.com]

  Ataxia, facial fasciculation, lid retraction, dementia and peripheral neuropathy. The prognosis varies considerably, even within families. [patient.info]

• Spastic Paraplegia

  Co-existence of spastic paraplegia-30 with novel KIF1A mutation and spinocerebellar ataxia 31 with intronic expansion of BEAN and TK2 in a family. J Neurol Sci 372 128-130 2017 10.1016/j.jns.2016.11.032. 原著論文 2 Ito K, Ohtsuka C, Yoshioka K, et al. [mhlw-grants.niph.go.jp]

  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]

  Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia, Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia, Early Infantile Epileptic Encephalopathy X,XR,XD,G 99.98 NA of NA [igenomix.es]

  The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 2014;42:174–183. 36. van de Warrenburg BP, Sinke RJ, Verschuuren-Bemelmans CC, Scheffer H, Brunt ER, Ippel PF, et al. [e-jmd.org]

• Motor Symptoms

  These authors also observed that the onset of visual symptoms preceded the onset of motor symptoms in three cases with This study adds new neurogenetic information about SCA7 to the Indian literature. [annalsofian.org]

This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA. [books.google.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]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

References: [5] Treatment There is currently no effective causative therapy availa bl e and therefore treatment focuses on symptom management. References: [1] [4] Prognosis [amboss.com]

It brings together nearly the entire spectrum of motor disorders and Neurology into one convenient resource to aid in a comprehensive evaluation, diagnosis, distinction, and treatment of various disorders. [books.google.es]

References: [1] [4] Prognosis [amboss.com]

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

SCA Type 3, also known as Machado-Joseph disease (MJD) is the most common (21%) of all SCAs and shares the same prognosis of 10-20 years. [spinocerebellarataxia.org]

Prognosis - Spinocerebellar ataxia 8 Not supplied. Treatment - Spinocerebellar ataxia 8 There is no cure for spinocerebellar ataxia. There is also no treatment to slow the progression of the disease. Treatment, therefore, remains supportive. [checkorphan.org]

This disorder also has a poor prognosis. [emedicine.medscape.com]

Etiology Clinical features Diagnostics The diagnosis is clinical and based on family history and neurological examination. Further tests help identify the specific cause and type of SCA. [amboss.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.es]

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]

Hereditary cerebellar ataxias are a clinically, pathologically, and etiologically heterogeneous group of disorders [ 1, 2 ]. [e-jmd.org]

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

Epidemiology References: [1] [2] Epidemiological data refers to the US, unless otherwise specified. Etiology Clinical features Diagnostics The diagnosis is clinical and based on family history and neurological examination. [amboss.com]

Case control studies and epidemiological studies, including genetic sequencing of ARCA, are needed in Korea. [e-jmd.org]

Pérez L, Cruz GS, Santos Falcón N, Almaguer Mederos L, Escalona Batallan K, Rodríguez Labrada R, Paneque Herrera M, Laffita Mesa JM, Rodríguez Díaz JC, Rodríguez RA, González Zaldivar Y, Coello Almarales D, Almaguer Gotay D, Jorge Cedeño H: Molecular epidemiology [karger.com]

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]

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]

"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]

[…] following: JavaScript may be disabled or not running on your browser Your browser may appear to be an automated tool that is not allowed on Octopart You are using a VPN to access Octopart An error (please contact us so we can correct it) What can I do to prevent [octopart.com]

Prevention of secondary complications: Joint contractures can be prevented by appropriate physiotherapy. Surveillance: annual neurologic examination. [lacaf.org]

Prevention Genetic testing enables identification of the causative gene in 50-80% of cases of ADCA [ 15 ]. Pre-symptomatic testing is available but not always wanted. It is usually requested for family planning purposes. [patient.info]

Prevention - Spinocerebellar ataxia 8 Not supplied. Diagnosis - Spinocerebellar ataxia 8 The diagnosis of spinocerebellar ataxia is initially suspected by the adult-onset of symptoms. [checkorphan.org]

Newman is a recipient of a Research to Prevent Blindness Lew R. Wasserman Merit Award. Drs. Leigh and Thurtell are supported by NIH Grant EY06717, by the Department of Veterans Affairs, and by the Evenor Armington Fund. [journals.lww.com]