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Category Archives: Ataxia

Ataxia Overview – Johns Hopkins Medicine

Ataxia is typically defined as the presence of abnormal, uncoordinated movements. This usage describes signs & symptoms without reference to specific diseases. An unsteady, staggering gait is described as an ataxic gait because walking is uncoordinated and appears to be not ordered. Many motor activities may be described as ataxic if they appear to others, or are perceived by patients, as uncoordinated. Ataxia can also refer to a group of neurological disorders in which motor behavior appears uncoordinated. Walking, speaking clearly, swallowing, writing, reading, and other activities that require fine motor control may be abnormal in patients with ataxia. Ataxia may result from abnormalities in different parts of the nervous system or different parts of the body, such as ataxic movements due to orthopedic injuries or pain from arthritis or muscle injury. Ataxia may result from abnormalities in different parts of the nervous system, including the central nervous system (brain and spinal cord) and peripheral nervous system (roots and nerves that connect the central nervous system to muscles, skin, and the outside world). When patients experience abnormal walking or uncoordinated use of their hands or arms, dysfunction of the cerebellum is often responsible. The cerebellum is a rounded structure attached to the brainstem with a central portion (vermis) and two lateral lobes (cerebellar hemispheres). It sits beneath the back of the cerebral hemispheres (occipital cortices). The outer surface of the cerebellum is a continuous layer of nerve cells called the cerebellar cortex. The cortex is a three-layered sheet of neurons that are extensively interconnected and have a highly regular geometric organization. The cerebellar cortex receives information from most parts of the body and from many other regions of the brain. The cerebellum integrates this information and sends signals back to the rest of the brain that enable accurate and well coordinated movements. Although unsteady gait may result from problems in different parts of the nervous system or of the body, abnormal walking due to cerebellar dysfunction has distinct features that are usually recognizable. Persons with an ataxic gait due to cerebellar dysfunction keep their legs further apart than normal, referred to clinically as a broadened base. They often stagger and resemble persons who have ingested excessive alcohol. The resemblance of ataxia to inebriation is not a coincidence as alcohol is known to affect the main nerve cells in the cerebellum. Although brief alcohol-induced staggering is usually reversible, repeated exposure to high doses of alcohol may cause degeneration of neurons in the cerebellum and result in persistent ataxia. Purkinje neurons are unusually susceptible to different forms of injury, including other toxins, prolonged seizures, and lack of oxygen. Cerebellar ataxia differs from gait problems due to abnormalities in other parts of the nervous system, such as the abnormal gait seen in Parkinsons disease, normal pressure hydrocephalus, or different forms of spasticity in the legs. Cerebellar ataxia is also distinguishable from abnormal walking due to pain and/or muscle or orthopedic abnormalities in the hips, legs, or feet. To request an appointment, please contact the Johns Hopkins Parkinsons Disease and Movement Disorders Center at 410-502-0133. Request an Appointment Adult Neurology: 410-955-9441 Pediatric Neurology: 410-955-4259 Adult Neurosurgery: 410-955-6406 Pediatric Neurosurgery: 410-955-7337 Whether you’re crossing the country or the globe, we make it easy to access world-class care at Johns Hopkins. Continue reading



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Ataxia Overview - Johns Hopkins Medicine

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Spinocerebellar Ataxia – Genetic Clumsiness Disorders

Updated December 04, 2014. When people discuss spinal cerebellar ataxia (SCA), they are actually referring to a group of neurodegenerative disorders that cause progressive clumsiness. There are more than 35 different types of spinal cerebellar ataxias, each caused by a different genetic mutation. Furthermore, new forms continue to be discovered. Despite there being so many different variations, SCA is actually pretty rare. Even so, it is one of the most common causes of genetic ataxia. Even among people with no family history who develop ataxia for no other clear reason, a new SCA mutation can be found about 20 percent of the time. What Causes SCA? SCA is due to a genetic mutation. Many types are due to so-called expansion mutations, in which several nucleotides (usually cytosine, adenosine, and guanine) repeat more than is found in healthy people. In the common form involving three nucleotides repeating, this is called a trinucleotide repeat. The result of that repetition is that a mutated form of protein is expressed, leading to disease symptoms. Spinocerebellar ataxia is usually inherited in an autosomal dominant fashion, meaning that if one of the parents has the disorder, there is about a 50 percent chance that a child will have the disease as well. As the name spinocerebellar ataxia suggests, the disease afflicts the cerebellum and more. The brainstem can also waste away (atrophy), especially in SCA types 1, 2, and 7. The regions of the atrophy often control eye movements, leading to abnormal findings when a neurologist performs their physical exam. What Is the Prognosis in Spinal Cerebellar Atrophy? 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. In general, the longer the repeat is, the younger the patient will be when the symptoms come on, and the more rapid the disease progression. In general, SCA type 1 is more aggressive than types 2 or 3, and type 6 is the least aggressive SCA due to a trinucleotide repeat. We dont have much information on other types of spinocerebellar ataxias, but most people will require a wheelchair 10 to 15 years after the symptoms come on. While most forms of SCA shorten the lifespan, this is not always the case. How Is Spinocerebellar Atrophy Treated? There is no cure for SCA. Medications such as zolpidem or varenicline have been suggested to help ataxia in SCA type 2 and 3 respectively. SCA1 SCA1 causes about 3 to 16 percent of autosomal dominant cerebellar ataxias. In addition to ataxia, SCA1 is associated with difficulty speaking and swallowing. Increased reflexes are also common. Some patients also develop muscle wasting. The mutation of SCA1 is a trinucleotide repeat in a region called ataxin 1. The mutated form of ataxin 1 clumps together in cells, and may change how nerve cells translate their own genetic codes. This is especially true in cells of the cerebellum. SCA2 About 6 to 18 percent of people with spinocerebellar ataxia have SCA2. SCA 2 also causes coordination problems, but also causes slow eye movements. In severe cases, SCA 2 can cause developmental delay, seizures, and difficulty swallowing even in infancy. SCA2 is caused by another trinucleotide repeat, this time encoding a protein called ataxin 2. Wheras SCA1 affects the nucleus of the cell and DNA, SCA2 seems to affect RNA and collects outside the nucleus. SCA2 demonstrates how different people can suffer different symptoms even if they have the same mutation. An Italian family with SCA2 has suffered mental deterioration, and families from Tunesia have suffered chorea and dystonia. SCA3 SCA3, better known as Machado-Joseph disease, is the most common autosomal dominant SCA, making up between 21 to 23 percent of SCA in the United States. In addition to ataxia, patients with Machado-Joseph have slow eye movements and difficulty swallowing. Cognitive impairments may also occur, as can dysautonomia. On the neurologists exam, patients with SCA3 may have a mixture of upper and lower motor neuron findings suggestive of amyotrophic lateral sclerosis. SCA 4 and 5 These forms are less common, and are not due to trinucleotide repeats. SCA4 can have a peripheral neuropathy, but thats true of most spinocerebellar ataxias. SCA5 has almost no other symptoms than ataxia. SCA5 tends to be mild and progress slowly. Interestingly, the original mutation seems to have descended from the paternal grandparents of Abraham Lincoln. SCA6 SCA6 accounts for 15 to 17 percent of SCA. The mutation is in a gene also associated with episodic ataxia and some forms of migraine. In addition to ataxia, an abnormal eye movement known as nystagmus may appear on the neurological examination. SCA7 SCA7 only comprises 2 to 5 percent of autosomal dominant spinocerbellar ataxias. The symptoms depend on the age of the patient and the size of the repeat. Vision loss is sometimes associated with SCA7. In adults, this vision loss may come on before the ataxia. If the trinucleotide repeat is long, vision loss can actually come on first In childhood, seizures and heart disease come on with ataxia and vision loss. Because the rest of the spinocerebellar ataxias are so rare, Im not going to discuss them in any detail. Most of the time, the symptoms are difficult to distinguish from other SCAs that weve already covered, but the genetic mutations are different. For example, SCA8 is looks very much like other SCA, but is unusual in that rather than things getting worse with larger trinucleotide repeats, its only problem when there are 80 to 250 repeats. More or less doesnt seem to create a problem. SCA10 is a pentanucleotide repeat rather than a trinucleotide repeat. Some of these disorders, such as SCA25, have only been described in one family. Other Spinocerebellar Ataxias Although spinocerebellar ataxia is uncommon, it important for neurologists and patients to consider this diagnosis if there is a family history of clumsiness. A diagnosis of SCA may have important implications not just for the person immediately affected, but for their entire family as well. Sources: Geschwind DH, Perlman S, Figueroa CP, et al. The prevalence and wide clinical spectrum of the spinocerebellar ataxia type 2 trinucleotide repeat in patients with autosomal dominant cerebellar ataxia. Am J Hum Genet 1997; 60:842. Moseley ML, Benzow KA, Schut LJ, et al. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. Neurology 1998; 51:1666. Ranum LP, Lundgren JK, Schut LJ, et al. Spinocerebellar ataxia type 1 and Machado-Joseph disease: incidence of CAG expansions among adult-onset ataxia patients from 311 families with dominant, recessive, or sporadic ataxia. Am J Hum Genet 1995; 57:603. Storey E, du Sart D, Shaw JH, et al. Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia. Am J Med Genet 2000; 95:351. Continue reading



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Spinocerebellar Ataxia - Genetic Clumsiness Disorders

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Ataxia | Define Ataxia at Dictionary.com

Historical Examples Does not get on feet when turned on side; ataxia well marked. His name was Sabathier, and for fifteen years he had been stricken with ataxia. It seemed he was suffering from a form of ataxia, rapid in its progress and very painful. Consequently it would be indicated under all circumstances where a nervous affection seemed to depend upon a state of ataxia. She married a thirty-year-old active business man, in whom ataxia developed a year after marriage. The usefulness of electricity in ataxia has been denied by some authors, while others praise it indiscriminately. He had no ataxia or loss of sensibility in the upper half of the body. Slight scoliosis of the vertebral column and a misshapen right foot recalled Friedreich’s ataxia. ataxia had declared itself; he was able to walk now only leaning on his servant’s arm. While I have used it with good effect in other conditions, it is in ataxia that I have found it of most value. British Dictionary definitions for ataxia Expand (pathol) lack of muscular coordination Derived Forms ataxic, atactic, adjective Word Origin C17: via New Latin from Greek: lack of coordination, from a-1 + -taxia, from tassein to put in order Word Origin and History for ataxia Expand also anglicized as ataxy, “irregularity of bodily functions,” 1610s, “confusion, disorder,” medical Latin, from Greek ataxia, from a-, privative prefix, + taxis “arrangement, order,” from stem of tassein “to arrange” (see tactics). Pathological sense is attested from 1660s. ataxia in Medicine Expand ataxia ataxia (-tk’s-) or ataxy (-tk’s) n. Loss of the ability to coordinate muscular movement. Also called dyssynergia, incoordination. ataxia in Science Expand Continue reading



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Spinocerebellar ataxia – Wikipedia, the free encyclopedia

Spinocerebellar ataxia (SCA) or also known as Spinocerebellar atrophy or Spinocerebellar degeneration, is a progressive, degenerative,[1]genetic disease with multiple types, each of which could be considered a disease in its own right. An estimated 150,000 people in the United States are diagnosed with Spinocerebellar Ataxia. SCA’s are the largest group of this hereditary, progressive, degenerative and often fatal neurodegenerative disorder. There is no known effective treatment or cure. Spinocerebellar Ataxia can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry the ataxia gene until they have children who begin to show signs of having the disorder.[2] Most of the 60 different types of SCA that have been identified are diagnosed via autopsy, as there is no definitive test that can tell what type of SCA a living individual or if they have it at all. In 2008, a genetic ataxia blood test developed to test for 12 types of SCA, Friedreich’s ataxia, and several others. However, in the SCA group, with so many different types most go with a diagnosis of SCA unidentified or unknown. Usually the diagnosis comes after examination by a neurologist, which includes a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.[3] Many SCAs below fall under the category of polyglutamine diseases, which are caused when a disease-associated protein (i.e., ataxin-1, ataxin-3, etc.) contains a large number of repeats of glutamine residues, termed a polyQ sequence or a “CAG triplet repeat disease” for either the one-letter designation or codon for glutamine respectively. The threshold for symptoms in most forms of SCA is around 35, though for SCA3 it extends beyond 50. Most polyglutamine diseases are dominant due to the interactions of resulting polyQ tail.[citation needed] The first ataxia gene was identified in 1993 and called Spinocerebellar ataxia type 1″ (SCA1); later genes were called SCA2, SCA3, etc. Usually, the “type” number of “SCA” refers to the order in which the gene was found. At this time, there are at least 29 different gene mutations that have been found.[citation needed] The following is a list of some of the many types of Spinocerebellar ataxia. Others include SCA18, SCA20, SCA21, SCA23, SCA26, SCA28, and SCA29. Four X-linked types have been described (302500, 302600, 301790, 301840), but only the first of these has so far been tied to a gene (SCAX1). Spinocerebellar ataxia (SCA) is one of a group of genetic disorders characterized by slowly progressive incoordination of gait and is often associated with poor coordination of hands, speech, and eye movements. A review of different clinical features among SCA subtypes was recently published describing frequent hand movements in patients, causing intentional tremor.[16] As with other forms of ataxia, SCA frequently results in atrophy of the cerebellum,[17] loss of fine coordination of muscle movements leading to unsteady and clumsy motion, and other symptoms. The symptoms of an ataxia vary with the specific type and with the individual patient. In general, a person with ataxia retains full mental capacity but progressively loses physical control. The hereditary ataxias are categorized by mode of inheritance and causative gene or chromosomal locus. The hereditary ataxias can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. There is no known cure for spinocerebellar ataxia, which is considered to be a progressive and irreversible disease, although not all types cause equally severe disability. In general, treatments are directed towards alleviating symptoms, not the disease itself. Many patients with hereditary or idiopathic forms of ataxia have other symptoms in addition to ataxia. 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. If the disease is caused by a polyglutamine trinucleotide repeat CAG expansion, a longer expansion may lead to an earlier onset and a more radical progression of clinical symptoms. Typically, a person afflicted with this disease will eventually be unable to perform daily tasks (ADLs). However, rehabilitation therapists can help patients to maximize their ability of self-care and delay deterioration to certain extent. Stem cell research has been sought for a future treatment.[citation needed] Physical therapists can assist patients in maintaining their level of independence through therapeutic exercise programs. In general, physical therapy emphasizes postural balance and gait training for ataxia patients.[18] General conditioning such as range-of-motion exercises and muscle strengthening would also be included in therapeutic exercise programs. Research showed that spinocerebellar ataxia 2 (SCA2) patients [19] with a mild stage of the disease gained significant improvement in static balance and neurological indices after six months of a physical therapy exercise training program.[20]Occupational therapists may assist patients with incoordination or ataxia issues through the use of adaptive devices. Such devices may include a cane, crutches, walker, or wheelchair for those with impaired gait. Other devices are available to assist with writing, feeding, and self care if hand and arm coordination are impaired. A randomized clinical trial revealed that an intensive rehabilitation program with physical and occupational therapies for patients with degenerative cerebellar diseases can significantly improve functional gains in ataxia, gait, and activities of daily living. Some level of improvement was shown to be maintained 24 weeks post-treatment.[21] Speech language pathologists may use augmentative and alternative communication devices to help patients with impaired speech. Continue reading



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Spinocerebellar ataxia - Wikipedia, the free encyclopedia

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Friedreich's Ataxia Information Page: National Institute …

Friedreich’s ataxia is an inherited disease that causes progressive damage to the nervous system resulting in symptoms ranging from muscle weakness and speech problems to heart disease. Ataxia results from the degeneration of nerve tissue in the spinal cord and of nerves that control muscle movement in the arms and legs. Symptoms usually begin between the ages of 5 and 15 but can appear as early as 18 months or as late as 30 years of age. The first symptom is usually difficulty in walking. The ataxia gradually worsens and slowly spreads to the arms and then the trunk. Foot deformities such as clubfoot, flexion (involuntary bending) of the toes, hammer toes, or foot inversion (turning in) may be early signs. Rapid, rhythmic, involuntary movements of the eyeball are common. Most people with Friedreich’s ataxia develop scoliosis (a curving of the spine to one side), which, if severe, may impair breathing. Other symptoms include chest pain, shortness of breath, and heart palpitations. Some individuals may develop diabetes. Doctors diagnose Friedreich’s ataxia by performing a careful clinical examination, which includes a medical history and a thorough physical examination. Several tests may be performed, including electromyogram (EMG) and genetic testing. There is currently no effective cure or treatment for Friedreich’s ataxia. However, many of the symptoms and accompanying complications can be treated to help patients maintain optimal functioning as long as possible. Diabetes and heart problems can be treated with medications. Orthopedic problems such as foot deformities and scoliosis can be treated with braces or surgery. Physical therapy may prolong use of the arms and legs. Generally, within 15 to 20 years after the appearance of the first symptoms, the person is confined to a wheelchair, and in later stages of the disease, individuals become completely incapacitated. Most people with Friedreich’s ataxia die in early adulthood if there is significant heart disease, the most common cause of death. Some people with less severe symptoms live much longer. Studies have revealed that frataxin, a protein that should normally be present in the nervous system, the heart, and the pancreas, is severely reduced in patients with Friedreich’s ataxia. Studies have shown that patients have abnormally high levels of iron in their heart tissue. It is believed that the nervous system, heart, and pancreas may be particularly susceptible to damage from free radicals (produced when the excess iron reacts with oxygen) because once certain cells in these tissues are destroyed by free radicals they cannot be replaced. Nerve and muscle cells also have metabolic needs that may make them particularly vulnerable to free radical damage. The discovery of the genetic mutation that causes Friedreich’s ataxia has added new impetus to research efforts on this disease. Prepared by: Office of Communications and Public Liaison National Institute of Neurological Disorders and Stroke National Institutes of Health Bethesda, MD 20892 NINDS health-related material is provided for information purposes only and does not necessarily represent endorsement by or an official position of the National Institute of Neurological Disorders and Stroke or any other Federal agency. Advice on the treatment or care of an individual patient should be obtained through consultation with a physician who has examined that patient or is familiar with that patient’s medical history. All NINDS-prepared information is in the public domain and may be freely copied. Credit to the NINDS or the NIH is appreciated. Continue reading



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Gluten Ataxia Symptoms: Poor Balance, Tingling in Feet

Gluten ataxia symptoms can include loss of balance and nerve damage in your legs and arms. Getty Images/Juanmonino Updated December 11, 2014. Written or reviewed by a board-certified physician. See About.com’s Medical Review Board. Symptoms of gluten ataxia can range from progressive balance difficulties and unsteadiness on your feet to problems swallowing. You might have double vision, or even issues controlling your bladder. Your symptoms might come on slowly or might appear suddenly, but probably won’t include gastrointestinal symptoms that could indicate celiac disease. Researchers are only beginning to define gluten ataxia, and not all mainstream physicians agree that it’s a valid diagnosis. In addition, there are no recognized medical tests to diagnose gluten ataxia, although the top researchers in the field of celiac disease and gluten sensitivity have proposed a diagnostic procedure. Nonetheless, various medical studies have outlined the symptoms of gluten ataxia, and have speculated on how many people might have gluten ataxia. The symptoms of gluten ataxia are identical to those of other forms of ataxia, making it more challenging to provide a proper diagnosis. Gluten ataxia patients generally are in their late 40s or early 50s when diagnosed, although the medical literature notes several cases where the condition develops in young children or teens. Men and women are fairly equally represented. In most cases, people notice problems with their gross motor skills first in other words, they’ll be very clumsy, they’ll walk unsteadily with a tendency to stumble or make missteps, and they’ll generally be extremely uncoordinated. Gluten ataxia sufferers may also notice problems with fine motor skills for example, someone with the condition might be unable to easily button a shirt or use a pen to write in longhand. Some patients also slur their words or have trouble speaking, and some have difficulty swallowing. Continue reading



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Gluten Ataxia Symptoms: Poor Balance, Tingling in Feet

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