Source:http://linkedlifedata.com/resource/pubmed/id/17850633
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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
2007-9-13
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pubmed:abstractText |
Gaucher disease (GD) is a lysosomal storage disorder with a wide spectrum of phenotypic presentations. We report the case histories of two adult brothers with GD who developed both parkinsonism and psychiatric symptoms. Direct sequencing and real-time polymerase chain reaction were used to establish that the patients were homozygous for mutation L444P. While parkinsonism has been described previously in GD, these patients had atypical features, including a complicated mood disorder. The comorbidity of GD and a mood disorder is a new finding, as psychiatric manifestations of GD have been described rarely. The etiology of the mental illness could be related to the processes contributing to the development of parkinsonism.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
0009-9163
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
72
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
357-61
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pubmed:meshHeading |
pubmed-meshheading:17850633-Age of Onset,
pubmed-meshheading:17850633-DNA Mutational Analysis,
pubmed-meshheading:17850633-Family Health,
pubmed-meshheading:17850633-Gaucher Disease,
pubmed-meshheading:17850633-Genotype,
pubmed-meshheading:17850633-Humans,
pubmed-meshheading:17850633-Lysosomal Storage Diseases,
pubmed-meshheading:17850633-Male,
pubmed-meshheading:17850633-Middle Aged,
pubmed-meshheading:17850633-Mood Disorders,
pubmed-meshheading:17850633-Movement Disorders,
pubmed-meshheading:17850633-Parkinsonian Disorders,
pubmed-meshheading:17850633-Phenotype,
pubmed-meshheading:17850633-Polymerase Chain Reaction
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pubmed:year |
2007
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pubmed:articleTitle |
Movement and mood disorder in two brothers with Gaucher disease.
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pubmed:affiliation |
Servizio Psichiatrico di Diagnosi e Cura, Ospedale Santo Spirito, Rome, Italy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, N.I.H., Intramural
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