Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3)
نویسندگان
چکیده
منابع مشابه
Molecular dissection and anatomical basis of dystonia: X-linked recessive dystonia-parkinsonism (DYT3).
Pathological findings in dystonia have been unclear. X-linked recessive dystonia-parkinsonism (XDP, DYT3), endemic in the Panay island, the Philippines, is characterized by the clinical onset with dystonia followed by parkinsonism. It provides a unique opportunity to explore the anatomical basis of dystonia, because it has discernible pathological changes even at its early phase of dystonia. Af...
متن کاملClinicopathological Phenotype and Genetics of X-Linked Dystonia–Parkinsonism (XDP; DYT3; Lubag)
X-linked dystonia-parkinsonism (XDP; OMIM314250), also referred to as DYT3 dystonia or "Lubag" disease, was first described as an endemic disease in the Philippine island of Panay. XDP is an adult-onset movement disorder characterized by progressive and severe dystonia followed by overt parkinsonism in the later years of life. Among the primary monogenic dystonias, XDP has been identified as a ...
متن کاملComplicated recessive dystonia parkinsonism syndromes.
In addition to pure PD and pure dystonic syndromes, there are a group of disorders with overlapping features. The differential diagnosis of these dystonia parkinsonism syndromes can be complex. In view of the growing list of recognized disorders and recent advances in genetics, we review the autosomal recessive forms of dystonia parkinsonism, summarizing clinical presentations, results of inves...
متن کاملSex linked recessive dystonia parkinsonism of Panay, Philippines (XDP).
Sex linked dystonia parkinsonism (XDP), also referred to as "lubag" in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the...
متن کاملReviews Sex linked recessive dystonia parkinsonism of Panay, Philippines (XDP)
Sex linked dystonia parkinsonism (XDP), also referred to as “lubag” in American literature, was described in 1975 occurring endemically in Panay, Philippines. It is an adult onset, sex linked, predominantly male, severe, progressive movement disorder with high penetrance and a high frequency of generalisation. The movement disorder is characterised by dystonic movements, usually starting in the...
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ژورنال
عنوان ژورنال: The Journal of Medical Investigation
سال: 2005
ISSN: 1343-1420,1349-6867
DOI: 10.2152/jmi.52.280