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手塚治虫さん トキワ荘の天井板に描いた直筆画 豊島区に寄贈 (NHK)

マンガの神様、手塚治虫さんが若き日を過ごしたアパート「トキワ荘」の天井板に描いた貴重な直筆画が東京 豊島区に寄贈されました。来月オープンする「トキワ荘」を復元し...

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Parkinsonian features in hereditary diffuse leukoencephalopathy with spheroids (HDLS) and CSF1R mutations.

著者 Sundal C , Fujioka S , Van Gerpen JA , Wider C , Nicholson AM , Baker M , Shuster EA , Aasly J , Spina S , Ghetti B , Roeber S , Garbern J , Tselis A , Swerdlow RH , Miller BB , Borjesson-Hanson A , Uitti RJ , Ross O , Stoessl JA , Rademakers R , Josephs
Parkinsonism Relat Disord.2013 Jun 17 ; ():.
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Department of Neurology, Mayo Clinic, Jacksonville, FL, USA; Department of Clinical Neuroscience and Rehabilitation, Institute of Neuroscience and Physiology, The Sahlgrenska Academy at University of Gothenburg, Gothenburg, Sweden.

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Atypical Parkinsonism associated with white matter pathology has been described in cerebrovascular diseases, mitochondrial cytopathies, osmotic demyelinating disorders, leukoencephalopathies leukodystrophies, and others. Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is an autosomal dominant disorder with symptomatic onset in midlife and death within a few years after symptom onset. Neuroimaging reveals cerebral white matter lesions that are pathologically characterized by non-inflammatory myelin loss, reactive astrocytosis, and axonal spheroids. Most cases are caused by mutations in the colony-stimulating factor 1 receptor (CSF1R) gene. We studied neuropathologically verified HDLS patients with CSF1R mutations to assess parkinsonian features. Ten families were evaluated with 16 affected individuals. During the course of the illness, all patients had at least some degree of bradykinesia. Fifteen patients had postural instability, and seven had rigidity. Two patients initially presented with parkinsonian gait and asymmetrical bradykinesia. These two patients and two others exhibited bradykinesia, rigidity, postural instability, and tremor (two with resting) early in the course of the illness. Levodopa/carbidopa therapy in these four patients provided no benefit, and the remaining 12 patients were not treated. The mean age of onset for all patients was about 45 years (range, 18-71) and the mean disease duration was approximately six years (range, 3-11). We also reviewed HDLS patients published prior to the CSF1R discovery for the presence of parkinsonian features. Out of 50 patients, 37 had gait impairments, 8 rigidity, 7 bradykinesia, and 5 resting tremor. Our report emphasizes the presence of atypical Parkinsonism in HDLS due to CSF1R mutations.
PMID: 23787135 [PubMed - as supplied by publisher]
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