Substantia nigra hyperechogenicity in DYT6 dystonia: A pilot study
نویسندگان
چکیده
منابع مشابه
DYT6 Dystonia: A Neuropathological Study.
BACKGROUND Mutations in the thanatos-associated protein domain containing apoptosis-associated protein 1 gene (THAP1) are responsible for adult-onset isolated dystonia (DYT6). However, no neuropathological studies of genetically proven DYT6 cases have been previously reported. OBJECTIVE We report the first detailed neuropathological investigation carried out on two DYT6 brains. METHODS Gene...
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Hyperechogenicity of the substantia nigra (SN+) is an imaging marker which may be detected in individuals at risk for Parkinson’s disease (PD). In this short commentary, the evidence of SN+ as a risk marker for PD including its predictive value, stability and the limitations in assessment are discussed based on the current literature.
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BACKGROUND Spatial discrimination thresholds (SDTs) assess somatosensory integration, and provide a window into better understanding the pathophysiology of dystonia. They are abnormal in some focal dystonias, but normal in DYT1 dystonia. It is unknown whether SDTs are altered in DYT6 gene mutation carriers (C). METHODS SDTs were assessed in 17 DYT6 C (including eight manifesting carriers), 15...
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Introduction: Hyperechogenicity of the substantia nigra (SN+) is a risk marker for Parkinson's disease (PD) which can be detected before the diagnosis. In healthy individuals, SN+ has been associated with slight deficits in specific cognitive functions, suggesting cognitive impairment as a possible pre-diagnostic marker for PD. However, the pattern of cognitive deficits associated with SN+ has ...
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The detection of an enlarged echogenic size ("hyperechogenicity") of the substantia nigra on transcranial sonography is increasingly used for the early and differential diagnosis of Parkinson disease. However, the diagnostic value of substantia nigra sonography depends on the quality of its execution. This article with an accompanying video presents a step-by-step description and demonstration ...
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ژورنال
عنوان ژورنال: Parkinsonism & Related Disorders
سال: 2010
ISSN: 1353-8020
DOI: 10.1016/j.parkreldis.2010.03.003