Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration
Identifieur interne : 003976 ( Main/Exploration ); précédent : 003975; suivant : 003977Clinical and neuropsychological correlates in two brothers with pantothenate kinase–associated neurodegeneration
Auteurs : Cecilia Marelli [Italie] ; Sylvie Piacentini [Italie] ; Barbara Garavaglia [Italie] ; Floriano Girotti [Italie] ; Alberto Albanese [Italie]Source :
- Movement Disorders [ 0885-3185 ] ; 2005-02.
Descripteurs français
- Pascal (Inist)
English descriptors
- KwdEn :
- Adult, Attention (physiology), Cognition Disorders (physiopathology), Dystonia (genetics), Dystonia (pathology), Dystonia (physiopathology), Hallervorden‐Spatz syndrome, Humans, Magnetic Resonance Imaging (methods), Male, Mental Status Schedule, Mutation, Missense (genetics), Nervous system diseases, Neuropsychological Tests (statistics & numerical data), Pantothenate kinase, Phosphotransferases (Alcohol Group Acceptor) (genetics), Problem Solving (physiology), Siblings, dystonia, neuropsychology, obsessive‐compulsive behavior.
- MESH :
- chemical , genetics : Phosphotransferases (Alcohol Group Acceptor).
- genetics : Dystonia, Mutation, Missense.
- methods : Magnetic Resonance Imaging.
- pathology : Dystonia.
- physiology : Attention, Problem Solving.
- physiopathology : Cognition Disorders, Dystonia.
- statistics & numerical data : Neuropsychological Tests.
- Adult, Humans, Male, Mental Status Schedule, Siblings.
Abstract
Adult‐onset focal dystonia was the presenting sign of pantothenate kinase‐associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini‐Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive–compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia–thalamocortical circuits. © 2004 Movement Disorder Society
Url:
DOI: 10.1002/mds.20282
Affiliations:
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Le document en format XML
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<term>Dystonia (pathology)</term>
<term>Dystonia (physiopathology)</term>
<term>Hallervorden‐Spatz syndrome</term>
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<term>Mental Status Schedule</term>
<term>Mutation, Missense (genetics)</term>
<term>Nervous system diseases</term>
<term>Neuropsychological Tests (statistics & numerical data)</term>
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<term>Phosphotransferases (Alcohol Group Acceptor) (genetics)</term>
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<front><div type="abstract" xml:lang="en">Adult‐onset focal dystonia was the presenting sign of pantothenate kinase‐associated neurodegeneration (PKAN) in a patient with a novel homozygous missense mutation (C856T). His brother shared the same mutation and showed similar, albeit minor, motor signs, but a different behavioral profile. Both brothers had an atypical form of PKAN. The neuropsychological assessment showed that, despite a normal Mini‐Mental State Examination, both patients presented a deficit of executive functions and of attention. The profile of cognitive impairment in these cases was typically that of a subcortical dementia. Both patients fulfilled Diagnostic and Statistical Manual for Mental Disorders criteria for obsessive–compulsive disorder; however, paranoia was associated with depression and aggressive behavior in Patient 1, whereas Patient 2 had hyperactivity, disinhibition, and euphoria. Our findings suggest that these two brothers had a different pattern of involvement of motor and nonmotor basal ganglia–thalamocortical circuits. © 2004 Movement Disorder Society</div>
</front>
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<tree><country name="Italie"><noRegion><name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name>
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<name sortKey="Albanese, Alberto" sort="Albanese, Alberto" uniqKey="Albanese A" first="Alberto" last="Albanese">Alberto Albanese</name>
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<name sortKey="Girotti, Floriano" sort="Girotti, Floriano" uniqKey="Girotti F" first="Floriano" last="Girotti">Floriano Girotti</name>
<name sortKey="Marelli, Cecilia" sort="Marelli, Cecilia" uniqKey="Marelli C" first="Cecilia" last="Marelli">Cecilia Marelli</name>
<name sortKey="Piacentini, Sylvie" sort="Piacentini, Sylvie" uniqKey="Piacentini S" first="Sylvie" last="Piacentini">Sylvie Piacentini</name>
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