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9,798 Possible Causes for (allelic, 2, ATAXIA,, Episodic, TYPE, variant)

  • Episodic Ataxia

    The heterozygous missense variant resulted in changing a highly conserved glutamic acid within the pore loop of domain IV.[] A small expanded (CAG) n allele at the SCA17 locus. Arch Neurol 59:623–9 (2002).[] […] in an EA–2 clinical phenotype.[] cerebellar ataxia (AHPCA).[] Clinical spectrum of episodic ataxia type 2.[] Dominant mutations or copy number variants in CACNA1A are a well-known cause of EA.[]

  • Spinocerebellar Ataxia Type 6

    Selective suppression of transiently expressed and endogenous polyQ-encoding Ca(V)2.1 splice variants was achieved in a variety of cell-based models including a human neuronal[] Spinocerebellar ataxia type 6 (SCA6) is one of three allelic disorders caused by mutations of CACNA1A gene, coding for the pore-forming subunit of calcium channel type P/Q[] Abstract Spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2) and familial hemiplegic migraine (FHM) have been known as allelic disorders, which are caused by[] The three allelic disorders, episodic ataxia type 2, familial hemiplegic migraine, and SCA6, have overlapping clinical features.[] Patients and families with spinocerebellar ataxia type 6 and familial hemiplegic migraine and cerebellar ataxia identified through the Portuguese survey of hereditary ataxias[] Molecular epidemiology of spinocerebellar ataxia type 6.[]

  • Spinocerebellar Ataxia, Type 2

    Of note was the association between cognitive decline and the variant G at mitochondrial polymorphism A10398G, a variant formerly related to earlier ages at onset in SCA2.[] Normal CACNA1A alleles contain 18 or fewer CAG repeats [ 10 ] and full penetrance pathogenic alleles contain 20 to 33 CAG repeats [ 11 , 12 ].[] KEYWORDS: Ataxin-2; Cerebellum; Neurodegeneration; Spinocerebellar ataxia type 2[] INTRODUCTION: The association between cerebellar ataxia and hypogonadism is seen rarely and is not well recognized.[] Other Episodic Ataxias The remaining episodic ataxia, types EA3 through EA8, are very rare.[] Abstract The cerebellum is one of the well-known targets of the pathological processes underlying spinocerebellar ataxia type 2 (SCA2) and type 3 (SCA3).[]

  • Hereditary Angioedema Type 3

    To date, sequencing of patients with no variant in exon 9 has failed to identify variants in other regions of the gene. 13 However, deep intronic variants, large deletions[] Again, one of the two gene alleles is abnormal but here the allele leads to the release of a non-functional protein.[] Critical Essential Core Tested Community Questions (2) Sorry, this question is for PEAK Premium Subscribers only Sorry, this question is for PEAK Premium Subscribers only[] His previous angioedema (AE) episodes involved his hands, feet, and genitalia; episodes generally occurred after physical trauma.[] Unlike HAE types 1 and 2, in which genetic mutations cause either insufficient production (type 1) or synthesis of a dysfunctional C1-INH (type 2), type 3 is most likely caused[] Variants in SERPING1 gene Classification Hereditary angioedema (HAE) types Type 1 – low complement 1 esterase inhibitor (C1-INH) level and low function (85%) If C1q is also[]

  • Spinocerebellar Ataxia Type 1

    S186C and other variants may be of relevance to the complex genetic factors involved in schizophrenia phenotypes.[] In contrast, the interrupted 39 trinucleotide-allele is not correlated with the SCA1 phenotype.[] [Table 1] , [Table 2][] Aemk paroxysmal ataxia with neuromyotonia, hereditary myokymia with periodic ataxia EA Episodic ataxia with myokymia Eam ataxia, episodic, with myokymia AEM Episodic ataxia[] Genetic background of apparently idiopathic sporadic cerebellar ataxia. Hum Genet. 2000;107(2):132–7. PubMed CrossRef Google Scholar 35.[] Each type arises due to a specific genetic mutation and in the case of spinocerebellar ataxia type 1 (SCA1), the ataxin-1 gene (located on chromosome 6) is expanded by trinucleotide[]

  • Neuronal Ceroid Lipofuscinosis

    Abstract Widespread cerebral atrophy and basal ganglia involvement are highly suggestive imaging features of the variants of late infantile type neuronal ceroid-lipofuscinosis[] These common mutations are IVS5-1G C and R208X (636C T) in CLN2 . 10 Analyses were conducted by allele specific PCR.[] There is a lack of accepted safety for use under medical supervision. 2 Has a high potential for abuse.[] We suggest CLN genes should be considered in the molecular analyses of patients presenting with adult-onset autosomal recessive cerebellar ataxia.[] Several episodes of supraventricular tachycardia manifested at 23 and 27 years of age.[] […] absence of vacuolated lymphocytes on a blood smear (differentiating this type of NCL from NCL3).[]

  • Oculomotor Apraxia

    The patient carries two novel missense variants in the SETX gene.[] Ataxia with oculomotor apraxia type 1 is caused by bi-allelic mutations in APTX (chromosome 9p21.1).[] Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disorder associated with mutations in the Senataxin (SETX) gene.[] Abstract Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia,[] The audiovestibular symptoms, tinnitus, sensorineural hearing loss and acute episodes of vertigo, are usually bilateral.[] Antenatal diagnosis Carrier testing for at-risk family members and prenatal testing are possible if both disease-causing alleles in a family are known.[]

  • Hereditary Angioedema Type 2

    Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.[] Again, one of the two gene alleles is abnormal but here the allele leads to the release of a non-functional protein.[] An estimated global prevalence of HAE ranges between 1:10,000 and 1:50,000, with 15% of cases attributed to type 2.[] Hereditary angioedema is an autosomal dominant and life-threatening disorder characterized by recurrent episodes of non-pitting edema affecting the skin, respiratory system[] We describe a young girl who presented with recurrent angioedema episodes.[] In an initial study, the I allele of the I/D polymorphism of the ACE gene and the A allele of the XPNPEP2 gene were found in three symptomatic patients from a family with[]

  • Multiple Sclerosis

    We conducted a pathological study to analyse neurogenic response in a patient with Marburg variant MS.[] In any case we included p-1 alleles, with the one excluded being the reference allele.[] CONCLUSIONS: In a phase 2 trial involving patients with progressive multiple sclerosis, ibudilast was associated with slower progression of brain atrophy than placebo but[] ‘Medusa head ataxia’: The expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia.[] OBJECTIVE: A 4.5-year follow-up study was conducted to characterize baseline verbal episodic memory (VEM) and its behavior and to assess the effects of relapsing-remitting[] Food and Drug Administration (FDA) to treat all types of MS. Each drug has an indication from the FDA for the type of MS it can be used to treat.[]

  • Hemiplegic Migraine

    Less Common Migraine Variants Acute confusional migraine Acute confusional migraine is a rare migraine variant that is almost exclusively seen in young children.[] FHM1, EA2 and SCA6 are all allelic disorders with clinically related features.[] We report 2 cases of children with presumed HM and late cytotoxic edema. 2012 American Headache Society.[] Patients and families with spinocerebellar ataxia type 6 and familial hemiplegic migraine and cerebellar ataxia identified through the Portuguese survey of hereditary ataxias[] Previously, such episodes led to hospitalization and extended clinical examinations, which further worsened the psychoses.[] METHODS: Here, we explored the effects of the FHM-1 K1336E mutation on G protein-dependent modulation of the recombinant P/Q-type channel.[]

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