DYT6 Dystonia: A Neuropathological 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...
متن کاملSpatial Discrimination Threshold Abnormalities are not Detected in a Pilot Study of DYT6 Dystonia Mutation Carriers
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...
متن کاملMutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study.
BACKGROUND Mutations in THAP1 were recently identified as the cause of DYT6 primary dystonia; a founder mutation was detected in Amish-Mennonite families, and a different mutation was identified in another family of European descent. To assess more broadly the role of this gene, we screened for mutations in families that included one family member who had early-onset, non-focal primary dystonia...
متن کاملPallidaldeep brain stimulation for the treatment of DYT6 dystonia: a case report and review of literature
Little is known about the results of pallidal deep brain stimulation (DBS) in DYT6 dystonia. This will be the first report of DYT6 dystonia treated with pallidal DBS from Iran. A 21 years old male patient with DYT6 dystonia underwent bilateral deep brain stimulation. The target of DBS was the sensorimotor region of the posteroventralglobuspallidusinternus (GPi). DBS parameters included an amp...
متن کاملTowards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1
The transcription factor THAP1 (THanatos Associated Protein 1) has emerged recently as the cause of DYT6 primary dystonia, a type of rare, familial and mostly early-onset syndrome that leads to involuntary muscle contractions. Many of the mutations described in the DYT6 patients fall within the sequence-specific DNA-binding domain (THAP domain) of THAP1 and are believed to negatively affect DNA...
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ژورنال
عنوان ژورنال: Neurodegenerative Diseases
سال: 2015
ISSN: 1660-2854,1660-2862
DOI: 10.1159/000440863