Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia
Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral neuropathy. The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few yea...
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| Veröffentlicht in: | Journal of child neurology 2005-06, Vol.20 (6), p.523-525 |
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| creator | Mahajnah, Muhammad Basel-Vanagaite, Lina Inbar, Dov Kornreich, Liora Weitz, Raphael Straussberg, Rachel |
| description | Ataxia with oculomotor apraxia is an autosomal recessive inherited disease characterized by childhood onset of progressive cerebellar ataxia, oculomotor apraxia, and progressive motor peripheral neuropathy. The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few years later. Diagnosis is based on molecular genetic analysis for mutations of the aprataxin (APTX) gene (chromosome 9p 13.1; ataxia with oculomotor apraxia 1). Ataxia with oculomotor apraxia 2 is caused by an unknown gene mutation at locus 9q34. We describe two siblings, born to consanguineous parents, who had clinical features of cerebellar ataxia, tremor, dysarthria, oculomotor apraxia, and motor peripheral neuropathy. Brain magnetic resonance imaging showed cerebellar atrophy and mild brainstem atrophy. Electromyography showed signs of axonal neuropathy. The molecular genetic analysis demonstrated the APTX mutation W279X at locus 9p13.3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment. We suggest that mentation can be compromised in ataxia with oculomotor apraxia 1. (J Child Neurol 2005;20:523-525). |
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The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few years later. Diagnosis is based on molecular genetic analysis for mutations of the aprataxin (APTX) gene (chromosome 9p 13.1; ataxia with oculomotor apraxia 1). Ataxia with oculomotor apraxia 2 is caused by an unknown gene mutation at locus 9q34. We describe two siblings, born to consanguineous parents, who had clinical features of cerebellar ataxia, tremor, dysarthria, oculomotor apraxia, and motor peripheral neuropathy. Brain magnetic resonance imaging showed cerebellar atrophy and mild brainstem atrophy. Electromyography showed signs of axonal neuropathy. The molecular genetic analysis demonstrated the APTX mutation W279X at locus 9p13.3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment. We suggest that mentation can be compromised in ataxia with oculomotor apraxia 1. 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The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few years later. Diagnosis is based on molecular genetic analysis for mutations of the aprataxin (APTX) gene (chromosome 9p 13.1; ataxia with oculomotor apraxia 1). Ataxia with oculomotor apraxia 2 is caused by an unknown gene mutation at locus 9q34. We describe two siblings, born to consanguineous parents, who had clinical features of cerebellar ataxia, tremor, dysarthria, oculomotor apraxia, and motor peripheral neuropathy. Brain magnetic resonance imaging showed cerebellar atrophy and mild brainstem atrophy. Electromyography showed signs of axonal neuropathy. The molecular genetic analysis demonstrated the APTX mutation W279X at locus 9p13.3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment. We suggest that mentation can be compromised in ataxia with oculomotor apraxia 1. (J Child Neurol 2005;20:523-525).</description><subject>Adolescent</subject><subject>Age of Onset</subject><subject>Apraxias - complications</subject><subject>Apraxias - genetics</subject><subject>Apraxias - psychology</subject><subject>Ataxia - complications</subject><subject>Ataxia - genetics</subject><subject>Ataxia - psychology</subject><subject>Child</subject><subject>Cognition Disorders - etiology</subject><subject>Cognition Disorders - genetics</subject><subject>Consanguinity</subject><subject>DNA Mutational Analysis</subject><subject>DNA Repair</subject><subject>DNA-Binding Proteins - genetics</subject><subject>Electromyography</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Nuclear Proteins - genetics</subject><subject>Oculomotor Nerve Diseases - complications</subject><subject>Oculomotor Nerve Diseases - genetics</subject><subject>Oculomotor Nerve Diseases - psychology</subject><subject>Pedigree</subject><subject>Siblings</subject><subject>Zinc Fingers</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqF0D1PwzAQBmALgWgp_AEGlIkt9M6OY3usKgqVkLqAGCPXdYqrfGEnCP49iVKJAQmmO52ee4eXkGuEO0Qh5iAlA8EkcKAAkCKckCkKkLGkkp2S6QDiQUzIRQiH3kiu4JxMkCuVJsCmZLHSpSucLqJlva9c6z5stC4b7XxpqzZ6de1btGj1p9PjvjFdUZd1W_to0fjhfknOcl0Ee3WcM_Kyun9ePsZPm4f1cvEUGwa0jXMGTClhbaoYz3OpuWQIlBtLJWhpNLIklXkqBCq-k5YmZqctprmRArZI2YzcjrmNr987G9qsdMHYotCVrbuQpRIAE8b_hRQpSETVQzpC4-sQvM2zxrtS-68MIRsazn433D_dHNO7bWl3Py_HSnswH0HQe5sd6s5XfS1_RX4DEhiBnw</recordid><startdate>200506</startdate><enddate>200506</enddate><creator>Mahajnah, Muhammad</creator><creator>Basel-Vanagaite, Lina</creator><creator>Inbar, Dov</creator><creator>Kornreich, Liora</creator><creator>Weitz, Raphael</creator><creator>Straussberg, Rachel</creator><general>Sage Publications</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TK</scope><scope>7X8</scope></search><sort><creationdate>200506</creationdate><title>Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia</title><author>Mahajnah, Muhammad ; 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The mean age at onset is approximately 4.7 years, with oculomotor apraxia appearing a few years later. Diagnosis is based on molecular genetic analysis for mutations of the aprataxin (APTX) gene (chromosome 9p 13.1; ataxia with oculomotor apraxia 1). Ataxia with oculomotor apraxia 2 is caused by an unknown gene mutation at locus 9q34. We describe two siblings, born to consanguineous parents, who had clinical features of cerebellar ataxia, tremor, dysarthria, oculomotor apraxia, and motor peripheral neuropathy. Brain magnetic resonance imaging showed cerebellar atrophy and mild brainstem atrophy. Electromyography showed signs of axonal neuropathy. The molecular genetic analysis demonstrated the APTX mutation W279X at locus 9p13.3 (ataxia with oculomotor apraxia 1 disease), and psychologic studies showed mild cognitive impairment. We suggest that mentation can be compromised in ataxia with oculomotor apraxia 1. 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| subjects | Adolescent Age of Onset Apraxias - complications Apraxias - genetics Apraxias - psychology Ataxia - complications Ataxia - genetics Ataxia - psychology Child Cognition Disorders - etiology Cognition Disorders - genetics Consanguinity DNA Mutational Analysis DNA Repair DNA-Binding Proteins - genetics Electromyography Female Humans Male Nuclear Proteins - genetics Oculomotor Nerve Diseases - complications Oculomotor Nerve Diseases - genetics Oculomotor Nerve Diseases - psychology Pedigree Siblings Zinc Fingers |
| title | Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia |
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