Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations
Identifieur interne : 001567 ( PascalFrancis/Checkpoint ); précédent : 001566; suivant : 001568Neuropsychiatric and cognitive features in autosomal-recessive early parkinsonism due to PINK1 mutations
Auteurs : Lilach Ephraty [Israël] ; Omer Porat [Israël] ; David Israeli [Israël] ; Oren S. Cohen [Israël] ; Olga Tunkel [Israël] ; Shinar Yael [Israël] ; Yasaku Hatano [Japon] ; Nobutaka Hattori [Japon] ; Sharon Hassin-Baer [Israël]Source :
- Movement disorders [ 0885-3185 ] ; 2007.
Descripteurs français
- Pascal (Inist)
English descriptors
Abstract
Autosomal-recessive early-onset Parkinsonism (AREP) due to PINK1 mutations is characterized by an early-onset, slowly progressive disease, with a good response to levodopa. Psychiatric and cognitive disturbances associated with AREP have rarely been reported in the literature. We describe 2 brothers from a Jewish-Iraqi consanguineous family with a homozygous PINK1 nonsense mutation. Both patients presented with anxiety and dysphoria accompanied by a gait disturbance that developed subsequently into a clinical depression. During the course of the disease, both developed drug-induced behavioral disturbances of the hedonistic homeostatic dysregulation type and 1 had drug-induced psychosis. The first patient had been diagnosed with mild mental retardation and during the 22 years of disease had further deteriorated; the second developed frontal-type dementia at an early age, 20 years after onset. Their father had a psychiatric disorder but no Parkinsonism. This report expands the phenotypic profile of PINK1-related disease, presenting unique psychiatric and cognitive features as part of the clinical picture.
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<s5>01</s5>
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<fC03 i1="01" i2="X" l="SPA"><s0>Sistema nervioso patología</s0>
<s5>01</s5>
</fC03>
<fC03 i1="02" i2="X" l="FRE"><s0>Parkinsonisme</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="ENG"><s0>Parkinsonism</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="02" i2="X" l="SPA"><s0>Parkinson síndrome</s0>
<s2>NM</s2>
<s5>02</s5>
</fC03>
<fC03 i1="03" i2="X" l="FRE"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="ENG"><s0>Mutation</s0>
<s5>09</s5>
</fC03>
<fC03 i1="03" i2="X" l="SPA"><s0>Mutación</s0>
<s5>09</s5>
</fC03>
<fC03 i1="04" i2="X" l="FRE"><s0>Neuropsychiatrie</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="ENG"><s0>Neuropsychiatry</s0>
<s5>10</s5>
</fC03>
<fC03 i1="04" i2="X" l="SPA"><s0>Neurosiquiatría</s0>
<s5>10</s5>
</fC03>
<fN21><s1>141</s1>
</fN21>
<fN44 i1="01"><s1>OTO</s1>
</fN44>
<fN82><s1>OTO</s1>
</fN82>
</pA>
</standard>
</inist>
<affiliations><list><country><li>Israël</li>
<li>Japon</li>
</country>
<settlement><li>Tokyo</li>
</settlement>
</list>
<tree><country name="Israël"><noRegion><name sortKey="Ephraty, Lilach" sort="Ephraty, Lilach" uniqKey="Ephraty L" first="Lilach" last="Ephraty">Lilach Ephraty</name>
</noRegion>
<name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name>
<name sortKey="Cohen, Oren S" sort="Cohen, Oren S" uniqKey="Cohen O" first="Oren S." last="Cohen">Oren S. Cohen</name>
<name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name>
<name sortKey="Hassin Baer, Sharon" sort="Hassin Baer, Sharon" uniqKey="Hassin Baer S" first="Sharon" last="Hassin-Baer">Sharon Hassin-Baer</name>
<name sortKey="Israeli, David" sort="Israeli, David" uniqKey="Israeli D" first="David" last="Israeli">David Israeli</name>
<name sortKey="Porat, Omer" sort="Porat, Omer" uniqKey="Porat O" first="Omer" last="Porat">Omer Porat</name>
<name sortKey="Tunkel, Olga" sort="Tunkel, Olga" uniqKey="Tunkel O" first="Olga" last="Tunkel">Olga Tunkel</name>
<name sortKey="Tunkel, Olga" sort="Tunkel, Olga" uniqKey="Tunkel O" first="Olga" last="Tunkel">Olga Tunkel</name>
<name sortKey="Yael, Shinar" sort="Yael, Shinar" uniqKey="Yael S" first="Shinar" last="Yael">Shinar Yael</name>
</country>
<country name="Japon"><noRegion><name sortKey="Hatano, Yasaku" sort="Hatano, Yasaku" uniqKey="Hatano Y" first="Yasaku" last="Hatano">Yasaku Hatano</name>
</noRegion>
<name sortKey="Hattori, Nobutaka" sort="Hattori, Nobutaka" uniqKey="Hattori N" first="Nobutaka" last="Hattori">Nobutaka Hattori</name>
</country>
</tree>
</affiliations>
</record>
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