Stress, exertion, alcohol and coffee may trigger the. Episodic ataxia type 1 and 2 familial periodic ataxiavertigo. Episodic ataxia med ataxia center, university of minnesota. There are several types, but type 2 are the most well understood, and they are called episodic ataxia type 1 and 2. Episodic ataxia type 2 michael strupp, andreas zwergal, and thomas brandt department of neurology, university of munich, munich, germany summary. Between spells, patients often demonstrate persistent nystagmus. Spells are characterized by ataxia, which may be accompanied by vertigo, diplopia, dysarthria, and generalized weakness. At least 8 types of episodic ataxia have been recognized referred to as types 1 through 8, which are distinguished based on their age of onset, features, andor genetic cause. Episodic ataxia type 1 and 2 familial periodic ataxia.
He was recently given a dna test and the results show a heterozygous missense mutation of the cacnb4 gene. Spinocerebellar ataxia types 1,2,3,6,7 symptoms, treatment. Missense cacna1a mutation causing episodic ataxia type 2. Episodic ataxia type 2 ea2 is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calciumchannel. Ataxia maybe inherited and caused by a genetic defect or it may be acquired due to structural damage to the cerebellum or spinal cord.
Treatment may include medication that reduces or eliminates symptoms. Coding and noncoding variation of the human calciumchannel beta4subunit gene cacnb4 in patients with idiopathic generalized epilepsy and episodic ataxia. Episodic ataxia type3 ea3 is similar to ea1 but often also presents with tinnitus and vertigo. The microsatellite marker ut705 was found to be linked to the ataxia locus with a 2 point analysis yielding a maximum. Episodic ataxia type 1 ea1 often associated with muscle twitching or stiffness episodic ataxia type 2 ea2 often associated with involuntary jerky eye movement. The number of types exceeding day by day with discovering the involved genetic sequences, yet now almost 29 types of sca discovered. The first published reports on the ea disease spectrum. Ataxia can be provoked by psychological stress or startle, or heavy exertion, including exercise.
However, these episodes occur less frequently than with. My 44 year old son has been having serious ataxia episodes for a year. Ea1 involves brief ataxic episodes that may last seconds or minutes. Episodic ataxia type 2 ea2 is associated with attacks of severe vertigo and sometimes nausea and vomiting that last from hours to days. In 1986, gancher and nutt, from portland, oregon, described three distinct syndromes of autosomal. A child with ea1 will have brief bouts of ataxia that last between a few seconds and a few minutes. During these episodes, many people also experience dizziness vertigo, nausea and vomiting, migraine headaches, blurred or double vision, slurred speech, and ringing in the ears tinnitus.
Synonyms are familial periodic ataxia or hereditary paroxysmal cerebellar ataxia. Its characterized by episodes of ataxia that last hours. Abstractpatients with episodic ataxia type 2 ea2 can often be successfully treated with acetazolamide. Jun 23, 2014 spinocerebellar ataxia 2 sca2 is a progressive disorder that causes symptoms including uncoordinated movement ataxia, speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia. Episodic ataxia type 1 mutations in the kcna1 gene impair the fast inactivation properties of the human potassium channels kv1. Familial hemiplegic migraine and episodic ataxia type2 are caused. Episodic ataxia type 2 ea2 is an autosomal dominant calcium channelopathy caused by a mutation in cacna1a. Ophoff ra, terwindt gm, vergouwe mn, van eijk r, oefner pj, hoffman sm, et al. Genetic ataxia may be sex linked, meaning that the dna and gene problem is located on an x or y chromosome the sex chromosomes or it may be autosomal linked, where the abnormality is located on one of the other 23 pairs of chromosomes. Episodic ataxia is a rare and unusual type of hereditary ataxia where someone experiences episodes of ataxia, but the rest of the time they have no or only mild symptoms. Rarely, however, symptoms may first manifest in patients older than 50 years.
The prognosis of episodic ataxia, type 2 may include the duration of episodic ataxia, type 2, chances of complications of episodic ataxia, type 2, probable outcomes, prospects for recovery, recovery period for episodic ataxia, type 2, survival rates, death rates, and other outcome possibilities in the overall prognosis of episodic ataxia, type. Ea5 this type of episodic ataxia is caused by sequence changes in a gene called cacnb4. Spinocerebellar ataxia type 6 sca6 is a rare, lateonset, autosomal dominant disorder, which, like other types of sca, is characterized by dysarthria, oculomotor disorders, peripheral neuropathy, and ataxia of the gait, stance, and limbs due to cerebellar dysfunction. This gene encodes a channel that allows calcium to. About 50% of individuals with ea2 have migraine headaches. In the spellfree interval, patients present with central ocular motor dysfunction, mainly. Onset is typically in childhood or early adolescence age range 2 32 years. Signs and symptoms usually begin in midadulthood but can appear any time from childhood to lateadulthood. Spinocerebellar ataxia 2 sca2 is a progressive disorder that causes symptoms including uncoordinated movement ataxia, speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia.
As with ea1, episodes are commonly triggered by physical and emotional stress. Sequencing of all exons and their surroundings revealed polymorphic variations, including a ca nrepeat d19s1150, a cag n. There are eight recognized types of ataxia that are episodic rather than progressive ea1 through ea7, plus lateonset episodic ataxia. The types of spinocerebellar ataxia sca depend on genetic mutation. Episodic ataxia type 2 ea2 is characterized by longer episodes of ataxia hours with interictal nystagmus and. Riant f, mourtada r, saugierveber p, tournierlasserve e. Other early signs and symptoms of sca2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement ophthalmoplegia. Episodic ataxia, type 2 is listed as a rare disease by the office of rare diseases ord of the national institutes of health nih. Living life with episodic ataxia type 2 ea2 bc balance. There are seven types recognised but the majority are due to two recognized entities. Spinocerebellar ataxia 2 sca2 is a progressive disorder that causes. I went on the internet searching for medical sites, case histories and more information.
Stress, exertion, alcohol and coffee may trigger the episodes which can last from hours to days. This gene encodes a channel that allows calcium to move in and out of nerve cells. The authors report three patients with ea2 two with. Episodic ataxia type 2 ea 2 usually begins in early childhood, most often before the age of 20. Jurkatrottb, a1st department of pediatrics, aristotle university of thessaloniki, egnatia st. Examples of treatable ataxias include those due to deficiencies of vitamin e or coenzyme q10, and episodic ataxia type 2. Episodic ataxia type 2 ea2 is characterized by paroxysmal attacks of. Patients have intermittent symptoms, with little or no difficulties in between attacks, are not thought to develop progressive deficits jen et al. Episodic ataxia ea is a rare, disabling condition of autosomal dominant inheritance, but it is not a distinct clinical entity. The microsatellite marker ut705 was found to be linked to the ataxia locus with a 2point analysis. Clinical and genetic studies of spinocerebellar ataxia type 2 in japanese kindreds. During attacks, they also have vertigo, nausea, vomiting, tinnitus and diplopia. This means that episodic ataxia, type 2, or a subtype of episodic ataxia, type 2, affects less than 200,000 people in the us population.
Episodic ataxia type 2 ea2 is a rare familial neurological condition characterized by debilitating episodes of vertigo and imbalance. High prevalence of cacna1a truncations and broader clinical spectrum in episodic ataxia type 2. Jan 15, 2019 episodic ataxia type 2 ea2 usually appears in childhood or early adulthood. Apr 21, 2016 i would like to obtain information about episodic ataxia type 5. Since the serendipitous discovery of dramatic response of ea2 to acetazolamide, acetazolamide has been the firstline treatment for ea2. Episodic ataxia type 5 ea5 with seizures episodic ataxia type 6 ea6 associated with seizures, hemiplegia, migraine episodic ataxia type 7 ea7 of adult onset in one family for which the genetic defect maps to 19q episodic ataxia type 8 ea8 of infantile onset in one family for which the genetic defect maps to 1p36. In some cases, symptoms improve or go away on their own. This type of episodic ataxia has been described in 2 caucasian families from north carolina. Familial hemiplegic migraine and episodic ataxia type2. Episodic ataxia type 1 ea1 is an autosomal dominant ion channel disorder affecting the cerebellum and peripheral nerves. Nystagmus, a condition in which the eyes move repetitively and uncontrollably, can be present not only during but also between attacks. Episodic ataxia is a group of related conditions that affect the nervous system and cause problems with movement. Episodic ataxia, type 2 symptoms, diagnosis, treatments. Medication typically has minimal impact on slowing ataxias progression unless it is caused by nutritional deficiencies.
People with episodic ataxia have recurrent episodes of poor coordination and balance ataxia. The causative gene of sca6 is also implicated in another form of dominant ataxia, episodic ataxia type 2, and a form of familial hemiplegic migraine both of which, like sca6, manifest with progressive ataxia, usually after 50 years. Episodic ataxia ea is an autosomal dominant disorder characterized by sporadic bouts of ataxia severe discoordination with or without myokymia continuous muscle movement. Episodic ataxia type 2 showing ictal hyperhidrosis with. Acetazolamide is the pharmacological treatment of choice for ea2. There seems to be little literature available online. During an episode, someone with episodic ataxia may experience. Only types 1 and 2 have been identified in more than one family, and type 2 is by far the most common form of the condition.
Episodic ataxia type 1 and 2 familial periodic ataxia vertigo. This test includes sequencing of the following genes cacna1a, slc1a3, kcna1, and cacnb4. Symptoms of episodic ataxia type 1 ea1 typically appear in early childhood. In a large family with this form of episodic ataxia, litt et al. Episodic ataxia, type 2 symptoms, diagnosis, treatments and. In the spellfree interval, patients present with central ocular. I believed i had episodic ataxia type 2 ea2 from what i read. Large cacna1a deletion in a family with episodic ataxia type 2. Episodic ataxia type 2 ea2 usually appears in childhood or early adulthood. Spinocerebellar ataxia type 2 sca2 is a condition characterized by progressive problems with movement. Other early signs and symptoms of sca2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles. Sca6episodic ataxia type 2 is the most common dominant ataxia in the british isles see figure 7. Spinocerebellar ataxia 2 genetic and rare diseases.
The prognosis is usually bad with survival rates less than a few years after onset. Oct 11, 2018 in 20 my neurologist suggested i may have cerebellar ataxia and that theres no cure. The treatment for ataxia can vary depending on exact what type of ataxia you have. It manifests with recurrent disabling attacks of imbalance, vertigo, and ataxia, and can be provoked by physical exertion or emotional stress. Episodic ataxia is uncommon, affecting less than 1 in 100,000 people. Other early signs and symptoms of sca2 include additional movement problems, speech and swallowing difficulties, and weakness in the muscles that control eye movement. Episodic ataxia type 2 ea2 is characterized by paroxysmal attacks of ataxia, vertigo, and nausea typically lasting minutes to days in duration. Familial hemiplegic migraine and episodic ataxia type2 are. Jun 08, 2019 episodic ataxia type 1 mutations in the kcna1 gene impair the fast inactivation properties of the human potassium channels kv1. Case study episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chromic diarrhea due to a novel cacna1a mutation d. Type 6 episodic ataxia ea6 is a rare form of episodic ataxia, identified initially in a 10yearold boy who first presented with 30 minute bouts of decreased muscle tone during infancy.
Treatment of episodic ataxia type 2 with the potassium channel. Prognosis the prognosis for a person with ataxia depends upon the type and nature of the disease. I then found that the only neurologist in bc that has knowledge of ea2 works at ubc. Cerebellar ataxia with peripheral neuropathy type 2 scan2. Episodic ataxia and the inability to control movement. Episodic ataxia is one type of ataxia among a group of. Abstract this report describes the clinical features of a 29 year female presenting with a 3 years history of episodes of cerebellar ataxia, dysarthria and. By linkage analysis of markers flanking the ea1 and ea2 loci 12p and 19p, respectively, steckley et al. Episodic ataxia type 2 ea2 is an autosomal dominant paroxysmal cerebellar ataxia, characterized by acetazolamideresponsive recurrent attacks of unsteadiness, lack of limb coordination, and dysarthria, often provoked by emotional or physical stress. By linkage analysis of markers flanking the ea1 160120 and ea2 108500 loci 12p and 19p, respectively, steckley et al. This test covers the most common causes for episodic ataxia, which is a variable condition characterized by intermittent attacks of ataxia and vertigo.
Treatment of episodic ataxia type 2 with the potassium. Genes for familial hemiplegic migraine fhm and episodic ataxia type2 ea2 have been mapped to chromosome 19p. This cerebellar function is permanent and progressive, differentiating. I would like to obtain information about episodic ataxia type 5. Attacks can be associated with dysarthria, diplopia, tinnitus, dystonia, hemiplegia, and headache. People with this condition initially experience problems with coordination and balance ataxia. Homepage rare diseases search search for a rare disease episodic ataxia type 3 disease definition episodic ataxia type 3 ea3 is a very rare form of hereditary episodic ataxia see this term characterized by vestibular ataxia, vertigo, tinnitus, and. Spinocerebellar ataxia type 2 genetics home reference nih. Ataxia as a result of trauma or infection may be a temporary condition, or leave some degree of permanent disability. Patients typically present with bouts of ataxia lasting less than 30 minutes and occurring once or twice daily. A rare genetic disorder characterized by episodes of incoordination and unsteadiness as well as nystagmus rapid, involuntary eye movements.
In 20 my neurologist suggested i may have cerebellar ataxia and that theres no cure. Episodic ataxia type 2 ea2 is characterized by longer episodes of ataxia hours with interictal nystagmus and mildly progressive baseline ataxia baloh et al. Onset is typically in childhood or early adolescence age range 232 years. Mar 05, 2012 episodic ataxia type 2 ea2 is a rare familial neurological condition characterized by debilitating episodes of vertigo and imbalance. The episodic ataxias are a relatively rare group of conditions which, as their name suggests, tend to affect people in bouts or attacks of unsteadiness. Diagnosis and management of progressive ataxia in adults. He required balance therapy as a young child to aid in walking and has a number of ataxic attacks, each separated by months to years. National faataxia founq dation home national ataxia. What is the prognosis of olivopontocerebellar atrophy opca. These vast varieties are denoted with a numbering system such as sca 1, sca 2 and so on.
347 878 286 1242 150 447 156 520 209 1239 1020 960 273 1238 646 699 866 1302 1344 879 445 939 843 1353 112 788 915 376 1182 841 1423 1122 42 1163 457