Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.
Identifieur interne : 000025 ( France/Analysis ); précédent : 000024; suivant : 000026Progression of neuropsychiatric and cognitive features due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene: a case report.
Auteurs : Namita Multani [Canada] ; Elena Moro [France] ; Anthony Lang [Canada] ; Mateusz Zurowski [Canada] ; Sarah Duff Canning [Canada] ; Maria Carmela Tartaglia [Canada]Source :
- Neurocase [ 1465-3656 ] ; 2016.
English descriptors
- KwdEn :
- Adult, Cognition Disorders (complications), Cognition Disorders (genetics), Disease Progression, Exons (genetics), Female, Genetic Testing, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Mental Disorders (complications), Mental Disorders (genetics), Mental Status Schedule, Neuropsychological Tests, Sarcoglycans (genetics), Sequence Deletion (genetics).
- MESH :
- chemical , genetics : Sarcoglycans.
- complications : Cognition Disorders, Mental Disorders.
- genetics : Cognition Disorders, Exons, Mental Disorders, Sequence Deletion.
- Adult, Disease Progression, Female, Genetic Testing, Humans, Longitudinal Studies, Magnetic Resonance Imaging, Mental Status Schedule, Neuropsychological Tests.
Abstract
Physical symptoms of myoclonus dystonia due to epsilon-sarcoglycan mutations are well documented; however, the progression of neuropsychiatric and cognitive symptoms remains unclear. We present a case of a 34-year-old woman with early childhood onset of myoclonic jerks, dystonic posture and developmental delay due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene. Over time, she developed neuropsychiatric symptoms. She underwent bilateral deep brain stimulation of the ventral intermediate nucleus of the thalamus for her motor symptoms, which greatly improved but she exhibited slow deterioration of her neuropsychiatric and cognitive symptoms, particularly apathy, aggression and severe executive dysfunction.
DOI: 10.1080/13554794.2015.1120312
PubMed: 26652670
Affiliations:
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pubmed:26652670Le document en format XML
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Safra Parkinson Disease Program, Toronto Western Hospital , UHN, University of Toronto , Toronto , ON , Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>c Morton and Gloria Shulman Movement Disorder Unit and E.J. 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Safra Parkinson Disease Program, Toronto Western Hospital , UHN, University of Toronto , Toronto , ON , Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>c Morton and Gloria Shulman Movement Disorder Unit and E.J. Safra Parkinson Disease Program, Toronto Western Hospital , UHN, University of Toronto , Toronto , ON </wicri:regionArea><wicri:noRegion>ON </wicri:noRegion></affiliation></author><author><name sortKey="Tartaglia, Maria Carmela" sort="Tartaglia, Maria Carmela" uniqKey="Tartaglia M" first="Maria Carmela" last="Tartaglia">Maria Carmela Tartaglia</name><affiliation wicri:level="1"><nlm:affiliation>a Memory Clinic , University Health Network , Toronto , ON , Canada.</nlm:affiliation><country xml:lang="fr">Canada</country><wicri:regionArea>a Memory Clinic , University Health Network , Toronto , ON </wicri:regionArea><wicri:noRegion>ON </wicri:noRegion></affiliation></author></analytic><series><title level="j">Neurocase</title><idno type="eISSN">1465-3656</idno><imprint><date when="2016" type="published">2016</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Cognition Disorders (complications)</term><term>Cognition Disorders (genetics)</term><term>Disease Progression</term><term>Exons (genetics)</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Mental Disorders (complications)</term><term>Mental Disorders (genetics)</term><term>Mental Status Schedule</term><term>Neuropsychological Tests</term><term>Sarcoglycans (genetics)</term><term>Sequence Deletion (genetics)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Sarcoglycans</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Cognition Disorders</term><term>Mental Disorders</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Cognition Disorders</term><term>Exons</term><term>Mental Disorders</term><term>Sequence Deletion</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Disease Progression</term><term>Female</term><term>Genetic Testing</term><term>Humans</term><term>Longitudinal Studies</term><term>Magnetic Resonance Imaging</term><term>Mental Status Schedule</term><term>Neuropsychological Tests</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Physical symptoms of myoclonus dystonia due to epsilon-sarcoglycan mutations are well documented; however, the progression of neuropsychiatric and cognitive symptoms remains unclear. We present a case of a 34-year-old woman with early childhood onset of myoclonic jerks, dystonic posture and developmental delay due to exons 2 to 5 deletion in the epsilon-sarcoglycan gene. Over time, she developed neuropsychiatric symptoms. She underwent bilateral deep brain stimulation of the ventral intermediate nucleus of the thalamus for her motor symptoms, which greatly improved but she exhibited slow deterioration of her neuropsychiatric and cognitive symptoms, particularly apathy, aggression and severe executive dysfunction.</div></front></TEI><affiliations><list><country><li>Canada</li><li>France</li></country></list><tree><country name="Canada"><noRegion><name sortKey="Multani, Namita" sort="Multani, Namita" uniqKey="Multani N" first="Namita" last="Multani">Namita Multani</name></noRegion><name sortKey="Duff Canning, Sarah" sort="Duff Canning, Sarah" uniqKey="Duff Canning S" first="Sarah" last="Duff Canning">Sarah Duff Canning</name><name sortKey="Lang, Anthony" sort="Lang, Anthony" uniqKey="Lang A" first="Anthony" last="Lang">Anthony Lang</name><name sortKey="Tartaglia, Maria Carmela" sort="Tartaglia, Maria Carmela" uniqKey="Tartaglia M" first="Maria Carmela" last="Tartaglia">Maria Carmela Tartaglia</name><name sortKey="Zurowski, Mateusz" sort="Zurowski, Mateusz" uniqKey="Zurowski M" first="Mateusz" last="Zurowski">Mateusz Zurowski</name></country><country name="France"><noRegion><name sortKey="Moro, Elena" sort="Moro, Elena" uniqKey="Moro E" first="Elena" last="Moro">Elena Moro</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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