Linked Life Data

20108380

Source:http://linkedlifedata.com/resource/pubmed/id/20108380

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
4
pubmed:dateCreated
2010-3-23
pubmed:abstractText
Parkinsonism in cerebrotendinous xanthomatosis (CTX) is rare. There are no published studies with imaging findings of dopamine transporter using (99m)Tc-[2-[[2-[[[3-(4-chlorophenyl)-8-methyl-8-azabicyclo [3,2,1] oct-2-yl] methyl] (2-mercaptoethyl) amino] ethyl] amino]-ethanethiolato(3-)-N2,N2,S2,S2]oxo-[1R-(exo-exo)] ((99m)Tc-TRODAT-1) SPECT in CTX patients. This report is on the clinical details of five genetically-proven CTX patients (two with and three without parkinsonism). Imaging findings using cranial magnetic resonance (MR) imaging and (99m)Tc-TRODAT-1 SPECT are also shown. Clinical correlation of neuroimaging findings and clinical presentations was made. A literature review of the clinical and neuroimaging features of eight CTX patients with parkinsonism reported in the English literature is also presented. The parkinsonian features of our two cases and the other eight reported cases occurred before the age of 50 years. The MR imaging study showed variable findings, in which, besides the common diffuse cerebral and cerebellar white matter lesions shown in CTX, several focal brain lesions were also noted. Of the focal lesions, substantia nigra abnormalities were seen only in the two cases with parkinsonism. The (99m)Tc-TRODAT-1 SPECT study showed different degrees of unilateral or bilateral abnormalities in the striatal binding in both visual and semiquantitative assessments. parkinsonism can be one of the neurologic presentations of CTX. Even though abnormal findings of the substantia nigra were detected in both of our CTX patients with parkinsonism, basal ganglion lesions have not been uniformly described in MR imaging findings of reported CTX patients with parkinsonism. (99m)Tc-TRODAT-1 SPECT study can be of value in the detection of striatal involvement, and the study results also suggest pre-synaptic dopamine neuron involvement in CTX patients with parkinsonism.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1531-8257
pubmed:author
pubmed:issnType
Electronic
pubmed:day
15
pubmed:volume
25
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
452-8
pubmed:meshHeading
pubmed-meshheading:20108380-Adult, pubmed-meshheading:20108380-Brain, pubmed-meshheading:20108380-Chromosomes, Human, Pair 2, pubmed-meshheading:20108380-Cytochrome P-450 CYP27A1, pubmed-meshheading:20108380-DNA Mutational Analysis, pubmed-meshheading:20108380-Female, pubmed-meshheading:20108380-Humans, pubmed-meshheading:20108380-Magnetic Resonance Imaging, pubmed-meshheading:20108380-Male, pubmed-meshheading:20108380-Middle Aged, pubmed-meshheading:20108380-Organotechnetium Compounds, pubmed-meshheading:20108380-Parkinsonian Disorders, pubmed-meshheading:20108380-Point Mutation, pubmed-meshheading:20108380-Radiopharmaceuticals, pubmed-meshheading:20108380-Severity of Illness Index, pubmed-meshheading:20108380-Tomography, Emission-Computed, Single-Photon, pubmed-meshheading:20108380-Tropanes, pubmed-meshheading:20108380-Xanthomatosis, Cerebrotendinous
pubmed:year
2010
pubmed:articleTitle
Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings.
pubmed:affiliation
Department of Neurology, Chang Gung Memorial Hospital-Kaohsiung Medical Center, Chang Gung University College of Medicine, Kaohsiung, Taiwan.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't