Definitions

1. Ataxia is a movement disorder that affects an estimated 150,000 people in the United States.
2. Ataxia is an unsteady and swaying walk. (Web site)
3. Ataxia is a condition marked by impaired coordination. (Web site)
4. Ataxia is a movement disorder that affects an estimated 150,000 people in the United States.
5. Ataxia is a symptom, not a specific disease or diagnosis. (Web site)

Gene

1. The patients with Friedreich's ataxia have a mutation in the frataxin gene. (Web site)
2. SCA3 ataxia is also known as Machado-Joseph disease and the gene affected is on chromosome 14.
3. During genetic analysis of several affected families (kindreds), investigators identified a gene responsible for Friedreich's Ataxia.

Ataxias

1. Ataxia (9 recruiting studies) 19.
2. Memory loss and ataxia after hyperemesis gravidarum: a case of Wernicke-Korsakoff syndrome. (Web site)
3. If symptoms of tabes dorsalis (locomotor ataxia) present, the best doctors doctor syphilis, even if tests fail to affirm their diagnosis. (Web site)
4. Disease is manifested by ataxia, seizures, and paresis and leads to early death.
5. Memory loss and ataxia after hyperemesis gravidarum: a case of Wernicke-Korsakoff syndrome. (Web site)

Friedreich

1. Examples of such disorders are Charcot-Marie-Tooth syndrome and Friedreich's ataxia. (Web site)
2. It results in an ataxic condition similar to Friedreich's ataxia. (Web site)
3. Phenotype correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. (Web site)
4. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. (Web site)
5. Ataxia Telangiectasia may be misdiagnosed as Friedreich Ataxia until dilated blood vessels appear in the skin (telangiectasias). (Web site)

Friedreich Ataxia

1. Idebenone in patients with Friedreich ataxia. (Web site)
2. The Friedreich ataxia phenotype is the most frequent clinical presentation.
3. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. (Web site)

Chromosome

1. SCA6 ataxia is caused by a mutation on at chromosome 19.
2. Location of the 9257 and ataxia mutations on mouse chromosome 18.
3. SCA7 ataxia is also known as olivopontocerebellar atrophy III, and results from a defect on chromosome 3.

Autosomal Dominant

1. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. (Web site)
2. Mapping of a new autosomal dominant spinocerebellar ataxia (SCA8) to chromosome 22. (Web site)
3. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family.

Cerebellar Ataxia

1. Understanding the physiopathology of paraneoplastic and genetic cerebellar ataxia.
2. Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. (Web site)
3. Hereditary adult-onset Alexander’s disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia. (Web site)
4. Familial Creutzfeldt-Jakob disease with D178N-129M mutation of PRNP presenting as cerebellar ataxia without insomnia. (Web site)
5. Hereditary adult-onset Alexander’s disease with palatal myoclonus, spastic paraparesis, and cerebellar ataxia.

Recessive

1. Autosomal recessive spastic ataxia of Charlevoix-Saguenay.
2. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
3. Friedreich ataxia is inherited as an autosomal recessive trait.
4. Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.
5. Ataxia with oculomotor apraxia type 2 (AOA2) (autosomal recessive); Le Ber et al 2004.

Spinocerebellar

1. Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families. (Web site)
2. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. (Web site)
3. Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord 2004;19:622-9.

Movements

1. Ataxia is incoordination of movements. (Web site)
2. The surviving homozygous mutant mice displayed movement disorder similar to ataxia.

Mitochondrial

1. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich's ataxia. (Web site)
2. Delatycki M - Friedreich's ataxia - clinical analysis and mitochondrial iron studies.

Episodic Ataxia

1. Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia. (Web site)
2. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. (Web site)

Repeat

1. Friedreich's ataxia GAA repeat expansion in patients with recessive or sporadic ataxia. (Web site)
2. Indcidence of dominant spinocerebellar and Freidreich triplet repeats among 361 ataxia families. (Web site)
3. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. (Web site)

Sporadic

1. The aetiology of sporadic adult-onset ataxia.
2. The diagnosis of gluten ataxia is vital as it is one of the very few treatable causes of sporadic ataxia. (Web site)
3. Patients with gluten ataxia (idiopathic sporadic ataxia with positive antigliadin antibodies) were identified and studied between 1996 and 2003. (Web site)

Vitamin Deficiency

1. Vitamin E deficiency is one of the treatable causes of ataxia.
2. We could not do the genetic studies for Ataxia with isolated Vitamin E deficiency (AVED). (Web site)
3. Ataxia with isolated vitamin E deficiency: A Japanese family carrying a novel mutation in the -tocopherol transfer protein gene. (Web site)

Molecular Genetics

1. Friedreich ataxia (FRDA) is the most common of the hereditary ataxias. (Web site)
2. Clinical, biochemical and molecular genetic correlation in Friedreich's ataxia. (Web site)
3. Broadened Friedreich's ataxia phenotype after gene cloning : minimal GAA expansion causes late-onset spastic ataxia. (Web site)
4. Early-onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. (Web site)
5. Late-onset Friedreich's : ataxia molecular genetics, clinical neurophysiology, and magnetic resonance imaging. (Web site)

Progressive

1. Here we just mention some of the most relevant progressive ataxia involving metabolism.
2. Syndrome of palatal myoclonus and progressive ataxia: two cases with magnetic resonance imaging. (Web site)
3. Progressive ataxia and palatal tremor (PAPT): Clinical and MRI assessment with review of palatal tremors -- Samuel et al. (Web site)

Genetic

1. Molecular genetic analyses of myelin deficiency and cerebellar ataxia. (Web site)
2. Late-onset Friedreich's : ataxia molecular genetics, clinical neurophysiology, and magnetic resonance imaging. (Web site)
3. The genetics of acute functional tolerance and initial sensitivity to ethanol for an ataxia test in the LSxSS RI strains.

Cerebellar Degeneration

1. Symptoms: Lactic acidosis, ataxia, pyruvic acidosis, spinal and cerebellar degeneration.
2. Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration.

Spinal

1. Ataxia may result from damage to the cerebellum, cerebellar pathways, or the spinal cord due to various underlying disorders, conditions, or other factors.
2. His most important contribution to neurology was the study of hereditary spinal ataxia. (Web site)
3. The ataxia results from neuronal degeneration in the spinal cord and peripheral nervous system.
4. Friedreich's Ataxia is a hereditary neuromuscular syndrome characterized by slow degenerative changes of the spinal cord and the brain. (Web site)

Calcium Channel

1. Mutations in the voltage gated calcium channel, CACNA1A, cause episodic ataxia type 2. (Web site)
2. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. (Web site)

Myoclonus

1. Screening for autoantibodies in children with opsoclonus myoclonus ataxia.
2. In cases of infants with neuroblastoma opsoclonus is accompanied by myoclonus and ataxia.

Coordination

1. Loss of these neurons results in impaired muscle coordination (ataxia), tremor, involuntary movement, and a speech disturbance (dysarthria). (Web site)
2. Most patients experience difficulty with balance and coordination of the legs and arms (ataxia) and slurred speech (dysarthria).

Hypotonia

1. Other clinical features commonly include hypotonia, ataxia, and developmental delay.
2. In the most common late infantile form, patients present with gait abnormalities, ataxia, nystagmus, and hypotonia. (Web site)
3. In the most common late infantile form, patients present with gait abnormalities, ataxia, nystagmus, and hypotonia. (Web site)

Mice

1. The term cerebellar ataxia is employed to indicate ataxia due to dysfunction of the cerebellum.
2. The most common example is ethanol, which is capable of causing overlapping cerebellar and vestibular ataxia.
3. Subacute onset of ataxia is usually seen in paraneoplastic cerebellar degeneration.
4. Apoptotic cell death of cerebellar granule neurons in genetically ataxia (ax) mice. (Web site)
5. The ataxia is associated with a cerebellar malformation that is remarkably similar to human Dandy-Walker malformation.

Limbs

1. There was mild ataxia of the left limbs and the gait was ataxic. (Web site)
2. This results in poorly controlled movement (cerebellar ataxia), especially of the muscles of the trunk and lower limbs.

Tremor

1. The chief types of muscular disorder are spasticity, athetosis, chorea, ataxia, and tremor.
2. The chief types of muscular disorder are spasticity, athetosis, chorea, ataxia, and tremor.
3. Dose-related adverse effects of valproic acid include tremor, sedation, fatigue, and ataxia. (Web site)

Wernicke

1. She presented upbeating nistagmus on upward gaze and gate ataxia recognised as Wernicke's encephalopathy. (Web site)
2. Many cases of the Korsakoff syndrome are diagnosed following an acute Wernicke encephalopathy, involving confusion, ataxia, nystagmus and ophthalmoplegia.
3. She presented upbeating nistagmus on upward gaze and gate ataxia recognised as Wernicke's encephalopathy. (Web site)
4. Many cases of the Korsakoff syndrome are diagnosed following an acute Wernicke encephalopathy, involving confusion, ataxia, nystagmus and ophthalmoplegia.

Nervous System

1. Exogenous substances that cause ataxia mainly do so because they have a depressant effect on central nervous system function.
2. Friedreich's ataxia (FA) is an inherited, progressive nervous system disorder causing loss of balance and coordination. (Web site)
3. Central nervous system toxicity was evaluated in the rotorod ataxia test.

Progressive Ataxia

1. This cerebellar degeneration can result in episodic or progressive ataxia. (Web site)
2. Progressive ataxia and palatal tremor (PAPT): Clinical and MRI assessment with review of palatal tremors -- Samuel et al. (Web site)
3. Several missense mutations that alter single highly conserved amino acid residues can cause EA2 56, 137 or severe progressive ataxia 158. (Web site)

Neurodegenerative

1. Koenig M: Rare forms of autosomal recessive neurodegenerative ataxia.
2. Spectrin mutations are a previously unknown cause of ataxia and neurodegenerative disease that affect membrane proteins involved in glutamate signaling.

Onset

1. Determinants of onset age in Friedreich's ataxia. (Web site)
2. An 11-year-old boy presented with sudden onset ataxia while playing at the beach.
3. Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
4. A very different point mutation may lead to early onset ataxia resembling FA but with retained reflexes. (Web site)

Sensory Ataxia

1. Vitamin B 12 deficiency may cause, among several neurological abnormalities, overlapping cerebellar and sensory ataxia.
2. Spinal disorders of various types may cause sensory ataxia from the lesioned level below, when they involve the dorsal columns.
3. Other unexpected presentations of FRDA (confirmed by molecular diagnosis) are pure sensory ataxia [ 107], spastic paraplegia [ 108, 109] and chorea [ 110].

Cerebellar Atrophy

1. Use of buspirone for treatment of cerebellar ataxia.
2. Nystagmus, ataxia and cerebellar atrophy may occur. (Web site)
3. Nystagmus, ataxia and cerebellar atrophy may occur. (Web site)
4. Core symptoms include cerebellar vermis hypoplasia, oligoprenia, ataxia, coloboma, and hepatic fibrosis.
5. The "Joubert syndrome" of episodic hyperpnea, cerebellar vermian dysgenesis with ataxia, and developmental delay was described by Joubert et al.

Forms

1. Genetic forms of ataxia must be distinguished from the acquired (non-genetic) ataxias.
2. Other forms are much less frequent, andinclude ataxia with vitamin E deficiency, abetalipoproteinemia. (Web site)

Arms

1. Ataxia may affect movement of the middle part of the body from the neck to the hip area (the trunk) or the arms and legs (limbs). (Web site)
2. Ataxia may affect the fingers and hands, the arms or legs, the body, speech or eye movements. (Web site)

Muscle

1. Other symptoms include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia).
2. With continued deficiency neurologic symptoms progress and patients can develop truncal and limb ataxia and diffuse muscle weakness. (Web site)
3. The 21-day-old mice showed clinical evidence of toxicity within 24 h and thereafter developed progressive muscle weakness and ataxia.

Cerebellar Signs

1. Huntington's disease, Cerebellar ataxia. (Web site)
2. Cerebellar ataxia: clumsiness of willed movements.
3. Cerebellar ataxia with anti-glutamic acid decarboxylase antibodies.
4. About 20% of families have cerebellar signs ranging from nystagmus to progressive, usually late onset cerebellar ataxia. (Web site)
5. About 20% of families have cerebellar signs ranging from nystagmus to progressive, usually late onset cerebellar ataxia. (Web site)

Slowly

1. Cerebellar ataxia begins in infancy with a slowly progressive course.
2. Mice that were protected by choline slowly developed neurological motor disturbances such as ataxia and hypokinesia, and lost weight.

Gait Ataxia

1. A tandem gait paradigm was used to quantify gait ataxia. (Web site)
2. ARSACS patients 35 present in early childhood with spastic gait ataxia. (Web site)
3. The clinical syndrome consisted of stance and gait ataxia in all patients, limb ataxia in 4 of 6 patients, and nystagmus in 3 of 6patients. (Web site)
4. The clinical syndrome consisted of stance and gait ataxia in all patients, limb ataxia in 4 of 6 patients, and nystagmus in 3 of 6patients. (Web site)

Clinical Signs

1. It was at this time that clinical signs first appeared consisting of ataxia, lack of balance, motor dyscoordination, and lordosis. (Web site)
2. Clinical signs included ascending paralysis, ataxia, cachexia, bladder atony, fever, hyperactivity, tremors, and paresthesia.

Friedrich

1. Friedrich’s ataxia is an example of autosomal recessive ataxia.
2. Clinical and genetic abnormalities in patients with Friedrich---s ataxia. (Web site)

Neurological

1. The neurological symptoms, which include involuntary movements, ataxia, and dementia, reflect the sites of iron deposition.
2. Neurological examination showed sings of ataxia, poor coordination, dysmetri, dysdiadochokinesia and intentional tremor.
3. In many cases, ataxia is a symptom of another neurological disorder rather than a distinct and separate illness.
4. The mice exhibited ataxia and tail atony, whereas animals given a replicon encoding green fluorescent protein (GFP) exhibited no neurological symptoms.

Ataxia

1. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
2. The core syndrome consists of areflexia, ophthalmoplegia, and ataxia.
3. Spinocerebellar ataxia with sensory neuropathy (SCA25) maps to chromosome 2p.
4. Case 1, 1995: Psychosis, dementia, chorea, ataxia, and supranuclear gaze dysfunction.
5. They also exhibit ataxia, with involuntary movements 18 and some have abnormal MRIs.

Dysmetria

1. Ataxia results in a lack of coordination and, eventually, difficulty in controlling the range of voluntary movement (dysmetria).
2. Examination of the animals found signs consistent with cerebellar disease including dysmetria, hind limb ataxia and a wide-based stance with truncal swaying.

Motor

1. Ataxia may result from impaired sensory or motor function.
2. Associated motor function disturbances include muscular weakness, joint abnormalities and ataxia.
3. It is characterized by ataxia, progressive motor deterioration, and loss of cerebellar Purkinje cells.

Categories

1. Humans > Health > Diseases > Symptoms
2. Society > Humans > Health > Diseases
3. Glossaries > Glossary of Medicine Stubs /
4. Books about "Ataxia" in Amazon.com
   

Continue: More Keywords - - - - - - - - - -