Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family
نویسندگان
چکیده
ized by onset in the late second or early third decade of life with a progressive, disabling, and drug-resistant action myoclonus and an invariably fatal course. The diagnosis is challenging until the full clinical picture is present. Progressive myoclonus ataxia or epilepsy with SCARB2 mutations should be distinguished from Unverricht-Lundborg disease, myoclonic epilepsy with ragged-red fibers, Lafora body disease, the neuronal ceroid lipofuscinosis, sialidosis, dentatorubro-pallido-luysian atrophy, and myoclonus dystonia syndrome (DYT 11).
منابع مشابه
Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.
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عنوان ژورنال:
دوره 27 شماره
صفحات -
تاریخ انتشار 2012