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Cerebellar Ataxia with Peripheral Neuropathy Type 2

SCAN2


Presentation

  • Vertigo, dizziness, and imbalance rank amongst the most common presenting symptoms in neurology, ENT, geriatric medicine, and general practice.[books.google.com]
  • Many different types of inherited ataxias are presently known. Examples include Machado-Joseph disease, ataxia-telangiectasia, and Friedreich ataxia.[encyclopedia.com]
  • Other causes of uncoordinated movement (ataxia) such as ataxia with vitamin E deficiency and ataxia with oculomotor apraxia type 1 and type 2 can also present with similar features to Friedreich ataxia.[thinkgenetic.com]
  • A diagnosis of SCA is suspected if the person presents with the adult onset of the symptoms associated with the disorder.[disabled-world.com]
  • It may be the presenting feature in polyneuropathies, or in other diseases which affect the peripheral nerves.[news-medical.net]
Physician
  • The thoroughly updated Twelfth Edition of this classic retains the organization, practicality, and readability that makes Merritt's Neurology one of the most popular texts among neurologists, primary care physicians, and residents reviewing for psychiatry[books.google.com]
  • It serves a useful clinical reference for neurologists, otorhinolaryngologists, audio-vestibular physicians, and senior trainees in those specialties.[books.google.com]
  • This information is not intended to be patient education, does not create any patient-physician relationship, and should not be used as a substitute for professional diagnosis and treatment.[diseaseinfosearch.org]
  • Friday, February 17th, 2012 at 11:00 am and is filed under Physicians-In-Training .[blogs.nejm.org]
  • A primary care physician is essential for coordination of health care available for patients, encouragement of preventative health management, education of patients about avoidance of risks, and to guide the use of medications.[hopkinsmedicine.org]
Chronic Fatigue Syndrome
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.com]
Benign Paroxysmal Positional Vertigo
  • Individual chapters address benign paroxysmal positional vertigo, vestibular migraine, vestibular neuritis, stroke, and Ménière's disease.[books.google.com]
Strabismus
  • Polyneuropathy was found in 97.5% of AOA2 patients, cerebellar atrophy in 96%, occasional oculomotor apraxia in 51%, pyramidal signs in 20.5%, head tremor in 14%, dystonia in 13.5%, strabismus in 12.3% and chorea in 9.5%.[lib.ugent.be]
Ataxia
  • The probability of missing AOA2 diagnosis, in case of sequencing senataxin gene only in non-Friedreich ataxia non-ataxia-telangiectasia ataxic patients with AFP level 7 mu g/l, is 0.23% and the probability for a non-Friedreich ataxia non-ataxia-telangiectasia[lib.ugent.be]
  • Coverage includes separate chapters on autism, autosomal recessive ataxias, and autosomal dominant ataxias, and new chapters on endovascular neuroradiology, parkinsonian syndromes, Lewy body dementias, frontotemporal dementia, vanishing white matter,[books.google.com]
  • Spinocerebellar and episodic ataxias are examples of autosomal dominant ataxias. Friedreich ataxia and ataxia telangiectasia are autosomal recessive.[medicinenet.com]
  • Tags: acute onset cerebellar ataxia , autosomal recessive cerebellar ataxia , cerebellar ataxia , cerebellar dysfunction , Friedreich's ataxia , neurodegenerative diseases Posted in Physicians-In-Training Permalink 2 Comments This entry was posted on[blogs.nejm.org]
  • Tests to differentiate Various systems in Ataxia- “The Ataxia Mimickers” 6. Cerebellar Ataxia Cortical Ataxia Myopathy Labrynthine Ataxia Sensory Ataxia (Posterior Column) Thalamic Ataxia Sensory Ataxia (Peripheral Neuropahy)) 7.[slideshare.net]
Peripheral Neuropathy
  • No patient was lacking both peripheral neuropathy and cerebellar atrophy.[lib.ugent.be]
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]
  • References Further Reading What is Peripheral Neuropathy? What Causes Peripheral Neuropathy? Peripheral Neuropathy Types Peripheral Neuropathy Symptoms Peripheral Neuropathy Treatment[news-medical.net]
  • Types of Peripheral Neuropathy There are several different kinds of peripheral neuropathies that stem from a variety of causes.[webmd.com]
  • No influence of CAG repeat length or biometric determinants on peripheral neuropathy could be identified in SCA1, SCA3, and SCA6. In SCA2, earlier onset and more severe ataxia were associated with peripheral neuropathy.[ncbi.nlm.nih.gov]
Cerebellar Ataxia
  • Oxford University Press. 132 p.2688-2698 132: Samenvatting: Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar[lib.ugent.be]
  • Vestibular mechanisms of balance impairment in person’s with pure cerebellar ataxia Lisa Bunn, Jon Marsden, Paola Giunti†, Brian Day†‡. This study explored balance in 29 person’s with genetically inherited cerebellar ataxia (SCA types 1,2,3 and 6).[www6.plymouth.ac.uk]
  • DRG Group #058-060 - Multiple sclerosis and cerebellar ataxia with CC. DRG Group #058-060 - Multiple sclerosis and cerebellar ataxia without CC or MCC.[icd.codes]
  • ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss Cerebellar ataxia, Cayman type Cerebellar ataxia - hypogonadism Cerebellar ataxia - ectodermal dysplasia Cerebellar ataxia with peripheral neuropathy Cerebellar hypoplasia -[sanfordresearch.org]
Stroke
  • Individual chapters address benign paroxysmal positional vertigo, vestibular migraine, vestibular neuritis, stroke, and Ménière's disease.[books.google.com]
  • My gp was sure I had had a stroke and sent me for tests. It definitely wasn't a stroke but I never got a real reply to what it was. The neurologist just said it was related to my ataxia but I don't know how or why!! I have unknown type of ataxia.[healthunlocked.com]
  • Causes and symptoms Ataxia may be a consequence of brain trauma, stroke, or aneurysm.[encyclopedia.com]
  • Stroke. When the blood supply to a part of your brain is interrupted or severely reduced, depriving brain tissue of oxygen and nutrients, brain cells die. Cerebral palsy.[mayoclinic.org]
  • Lesions similar to those found in multiple Sclerosis and strokes can be found from the lateral and dorsal columns from the spine.[stemcellthailand.org]
Vertigo
  • Vertigo, dizziness, and imbalance rank amongst the most common presenting symptoms in neurology, ENT, geriatric medicine, and general practice.[books.google.com]
  • Intermittent Cerebellar Ataxia, Ataxia (with Retinitis Pigmentosa, deafness, vestibullar abnormality, and intellectual dysfunction), Hypertrophic interstitial neuritis, Marinesco-Sjogren Syndrome, Pelizaeus-Merzbacher disease, Periodic ataxia (with attacks of vertigo[cmdg.org]
  • During an episode, someone with episodic ataxia may experience: problems with balance and co-ordination slurred, slow and unclear speech (dysarthria) muscle spasms involuntary eye movements (nystagmus) vertigo , migraines and tinnitus Episodic ataxia[nhs.uk]
  • The crisis starts with vertigo and ataxia, and is often associated with involuntary eye movements. This condition is treatable with daily administration of acetozolamide.[encyclopedia.com]

Treatment

  • TREATMENT PRECAUTION Please Note that not all patients Qualify for treatment of Degenerative Neurological conditions such as ATAXIA.[stemcellthailand.org]
  • Pharmacological treatment has been beneficial in a small number of patients with specific ataxias and further research is ongoing worldwide.[hopkinsmedicine.org]
  • The treatment was safe and well tolerated by all subjects.[raysahelian.com]
  • Peripheral Neuropathy Types Peripheral Neuropathy Symptoms Peripheral Neuropathy Treatment[news-medical.net]
  • 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

  • What is the prognosis for ataxia? Ataxia is the sign of an underlying disease or illness and the prognosis depends upon the response to treatment of that underlying cause.[medicinenet.com]
  • What is the Prognosis of Hereditary Sensory Neuropathy Type II? (Outcomes/Resolutions) The prognosis of Hereditary Sensory Neuropathy Type II is good with appropriate treatment.[dovemed.com]
  • These evaluations may demonstrate that the patient requires rehabilitation following discharge, and, depending upon the prognosis, even long-term placement in a skilled nursing facility. F. Prognosis and Patient Counseling.[clinicaladvisor.com]
  • 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]

Etiology

  • In 183 short chapters, the book provides the essentials clinicians need on symptoms/signs, diagnostic tests, and neurologic disorders of all etiologies. For this edition, Timothy A.[books.google.com]
  • Mechanisms NT may have different mechanisms of action, depending on the etiology. For instance, when the sensory input is impaired or altered, the resulting misinformation may cause tremor despite the brain and spinal cord functioning correctly.[news-medical.net]
  • Risk factors include those patients with malnutrition due to 1 or more nutrition-related etiologies: decreased nutrient intake, increased nutrient losses, or impaired nutrient absorption.[raysahelian.com]
  • Imaging is not necessary to confirm the diagnosis but can help confirm cerebellar atrophy and rule out other etiologies of cerebellar disease.[clinicaladvisor.com]
  • (Etiology) The cause of Hereditary Sensory Neuropathy Type II is a recessive mutation in either the WNK1 gene on chromosome 12 (A), the FAM134B gene on chromosome 5 (B), the KIF1A gene on chromosome 2 (C), or in the SCN9A gene on chromosome 2 (D).[dovemed.com]

Epidemiology

  • […] commonly at allele 37 (72%). 5 The vast majority (89%) of offspring of SGA2 confirmed patients have been shown to have expansions, whereas the remaining 11% have contracted cytosine, adenine, and guanine repeats with incomplete penetrance. 5 Limited epidemiologic[neurologyadvisor.com]
  • 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]
  • 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]
  • 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.[cambridge.org]
Sex distribution
Age distribution

Pathophysiology

  • Stage 1 is asymptomatic and largely undetectable, despite underlying pathophysiologic processes.[neurologyadvisor.com]
  • Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients.[alzheimer-europe.org]
  • The neuropathology, pathophysiology and genetics of multiple system atrophy. Neuropathol Appl Neurobiol. 2012;38:4-24. PubMed Koeppen AH, Mazurkievicz JE. Friedreich Ataxia: Neuropathology Revised. J Neuropathol Exp Neurol 2013;72(2):78-90.[neuropathology-web.org]
  • This information brings new insights into the understanding of the pathophysiology of nerve involvement in SCA2 and sets some key points about the phenotype, which is relevant to guide the genetic/molecular diagnosis.[link.springer.com]

Prevention

  • Can ataxia be prevented? Since ataxia is the sign of an underlying disease, it may not necessarily be preventable. However, avoiding external causes of ataxia (environmental chemicals and toxins) may prevent some individuals from developing ataxia.[medicinenet.com]
  • Currently, there are no specific methods or guidelines for the prevention of Hereditary Sensory Neuropathy Type II, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular[dovemed.com]
  • A primary care physician is essential for coordination of health care available for patients, encouragement of preventative health management, education of patients about avoidance of risks, and to guide the use of medications.[hopkinsmedicine.org]
  • Damage to these nerves interrupts communication between the brain and other parts of the body and can impair muscle movement, prevent normal sensation in the arms and legs, and cause pain.[webmd.com]
  • […] causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent[alzheimer-europe.org]

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