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27 Possible Causes for Mutation in the CACNA1A Gene, Onset of Dysarthria in Third Decade of Life

  • Spinocerebellar Ataxia Type 6

    The disease-causing mutation in this family was identified, showing that a unique mutation in the CACNA1A gene causes several phenotypes, including those of SCA6 and FHM,[ncbi.nlm.nih.gov] […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.com] […] in the CACNA1A gene.[doi.org]

  • Episodic Ataxia

    […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.com] The CACNA1A gene was screened by heteroduplex analysis and sequencing for mutations. MAIN OUTCOME MEASURE: Mutations in the CACNA1A gene.[ncbi.nlm.nih.gov] In patients without CACNA1A mutations, molecular testing for CACNB4 gene mutations excluded this genetic subtype.[ncbi.nlm.nih.gov]

  • Spinocerebellar Ataxia Type 30

    Spinocerebellar ataxia type 6 is caused by mutations in the CACNA1A gene. This condition is inherited in an autosomal dominant pattern.[diseaseinfosearch.org] […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com] The patient presented in this case was carries 19 CAG repeats in CACNA1A in the absence of point mutation in the remainder of the gene.[omicsonline.org]

  • Spinocerebellar Ataxia Type 19

    Mutations in the CACNA1A gene cause allelic disorders such as, episodic ataxia type 2 (EA-2), familial hemiplegic migraine (FHM), severe progressive ataxia with episodic features[scielo.br] […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com] The patient presented in this case was carries 19 CAG repeats in CACNA1A in the absence of point mutation in the remainder of the gene.[omicsonline.org]

  • Spinocerebellar Ataxia Type 23

    […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com] Spinocerebellar ataxia type 6 is caused by mutations in the CACNA1A gene. This condition is inherited in an autosomal dominant pattern.[diseaseinfosearch.org] All the patients had a common mutation in the CACNA1A gene, and the researchers suggested that episodic ataxia 2, SCA6, and familial hemiplegic migraine were possibly the[annalsofian.org]

  • Spinocerebellar Ataxia Type 5

    SCA6 is caused by mutations in CACNA1A, a gene encoding a calcium channel α subunit.[en.wikipedia.org] The onset of symptoms is usually in the third or fourth decade of life; however, more subtle clinical manifestations can start in early childhood.[ncbi.nlm.nih.gov] "Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene". J Neurol Sci . 241 (1–2): 13–7. doi : 10.1016/j.jns.2005.10.007 .[en.wikipedia.org]

  • Ataxia

    Two mutations causing a disrupted reading frame [ 159 ], two splice mutations in the CACNA1A gene [ 160 ], several (partly large-scale and partly exonic) deletions [ 161,[doi.org] […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com] CACNA1A genes mutations [ 21 ].[ijponline.biomedcentral.com]

  • Spinocerebellar Ataxia Type 13

    SCA6 is caused by mutations in CACNA1A, a gene encoding a calcium channel α subunit.[en.wikipedia.org] […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.com] All the patients had a common mutation in the CACNA1A gene, and the researchers suggested that episodic ataxia 2, SCA6, and familial hemiplegic migraine were possibly the[annalsofian.org]

  • Spinocerebellar Ataxia Type 12

    […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com] The patient presented in this case was carries 19 CAG repeats in CACNA1A in the absence of point mutation in the remainder of the gene.[omicsonline.org] Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.[jamanetwork.com]

  • Autosomal Dominant Spastic Ataxia Type 1

    The patient presented in this case was carries 19 CAG repeats in CACNA1A in the absence of point mutation in the remainder of the gene.[omicsonline.org] […] in third to fifth decade of life Pure cerebellar ataxia, nystagmus, dysarthria, dysphagia, hypotonia, and generalized and/or complex partial epilepsy Spinocerebellar ataxia[emedicine.medscape.com] Naik S, Pohl K, Malik M, Siddiqui A, Josifova D (2011) Early-onset cerebellar atrophy associated with mutation in the CACNA1A gene. Pediatr Neurol 45: 328-330.[omicsonline.org]

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